Vyzkoušejte nový nástroj s podporou AI
Summon Research Assistant
BETA
KwARG: parsimonious reconstruction of ancestral recombination graphs with recurrent mutation
Ignatieva, Anastasia, Lyngsø, Rune B, Jenkins, Paul A, Hein, Jotun
Published in Bioinformatics (Oxford, England) (11.10.2021)
Published in Bioinformatics (Oxford, England) (11.10.2021)
Get full text
Journal Article
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia
Coutelier, Marie, Blesneac, Iulia, Monteil, Arnaud, Monin, Marie-Lorraine, Ando, Kunie, Mundwiller, Emeline, Brusco, Alfredo, Le Ber, Isabelle, Anheim, Mathieu, Castrioto, Anna, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Lory, Philippe, Stevanin, Giovanni
Published in American journal of human genetics (05.11.2015)
Published in American journal of human genetics (05.11.2015)
Get full text
Journal Article
Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta
Kim, Y-J, Seymen, F, Koruyucu, M, Kasimoglu, Y, Gencay, K, Shin, TJ, Hyun, H-K, Lee, ZH, Kim, J-W
Published in Oral diseases (01.05.2016)
Published in Oral diseases (01.05.2016)
Get full text
Journal Article
Identification of a novel and recurrent mutation in the SERPING1 gene in patients with hereditary angioedema
Firinu, Davide, Colomba, Paolo, Manconi, Paolo Emilio, Barca, Maria P., Fenu, Luisa, Piseddu, Gavino, Zizzo, Carmela, del Giacco, Stefano R., Duro, Giovanni
Published in Clinical immunology (Orlando, Fla.) (01.05.2013)
Published in Clinical immunology (Orlando, Fla.) (01.05.2013)
Get full text
Journal Article
Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population
Mumtaz, Sara, Riaz, Hafiza Fizzah, Touseef, Mohammad, Basit, Sulman, Faiyaz Ul Haque, Muhammad, Malik, Sajid
Published in Pakistan journal of medical sciences (31.12.2015)
Published in Pakistan journal of medical sciences (31.12.2015)
Get full text
Journal Article
Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2
Saxena, A, de Lagarde, D, Leonard, H, Williamson, S L, Vasudevan, V, Christodoulou, J, Thompson, E, MacLeod, P, Ravine, D
Published in Journal of medical genetics (01.06.2006)
Published in Journal of medical genetics (01.06.2006)
Get full text
Journal Article
Carrier frequency of the recurrent mutation c.1643_1644delTG in the XPC gene and birth prevalence of the xeroderma pigmentosum in Morocco
DOUBAJ, Yassamine, LAARABI, Fatima-Zahra, CHAFAI ELALAOUI, Siham, BARKAT, Amina, SEFIANI, Abdelaziz
Published in Journal of dermatology (01.04.2012)
Published in Journal of dermatology (01.04.2012)
Get full text
Journal Article
High frequency of the recurrent c.1310_1313delAAGA BRCA2 mutation in the North-East of Morocco and implication for hereditary breast–ovarian cancer prevention and control
Laarabi, Fatima-Zahra, Ratbi, Ilham, Elalaoui, Siham Chafai, Mezzouar, Loubna, Doubaj, Yassamine, Bouguenouch, Laila, Ouldim, Karim, Benjaafar, Noureddine, Sefiani, Abdelaziz
Published in BMC research notes (02.06.2017)
Published in BMC research notes (02.06.2017)
Get full text
Journal Article
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations
Numata, Sanae, Koda, Yoshiro, Ihara, Kenji, Sawada, Tomo, Okano, Yoshiyuki, Matsuura, Toshinobu, Endo, Fumio, Yoo, Han-Wook, Arranz, Jose A, Rubio, Vicente, Wermuth, Bendicht, Ah Mew, Nicholas, Tuchman, Mendel, Pinner, Jason R, Kirk, Edwin P, Yoshino, Makoto
Published in Journal of human genetics (01.01.2010)
Published in Journal of human genetics (01.01.2010)
Get full text
Journal Article
Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population
Mumtaz, Sara, Riaz, Hafiza Fizzah, Touseef, Mohammad, Basit, Sulman, Faiyaz Ul Haque, Muhammad, Malik, Sajid
Published in Pakistan journal of medical sciences (01.11.2015)
Published in Pakistan journal of medical sciences (01.11.2015)
Get full text
Report
Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes
Graubert, Timothy A, Shen, Dong, Ding, Li, Okeyo-Owuor, Theresa, Lunn, Cara L, Shao, Jin, Krysiak, Kilannin, Harris, Christopher C, Koboldt, Daniel C, Larson, David E, McLellan, Michael D, Dooling, David J, Abbott, Rachel M, Fulton, Robert S, Schmidt, Heather, Kalicki-Veizer, Joelle, O'Laughlin, Michelle, Grillot, Marcus, Baty, Jack, Heath, Sharon, Frater, John L, Nasim, Talat, Link, Daniel C, Tomasson, Michael H, Westervelt, Peter, DiPersio, John F, Mardis, Elaine R, Ley, Timothy J, Wilson, Richard K, Walter, Matthew J
Published in Nature genetics (11.12.2011)
Published in Nature genetics (11.12.2011)
Get full text
Journal Article