FRY c.1829C>T ;(p.A610V)

Variant ID: 13-32735325-C-T

NM_023037.2(FRY):c.1829C>T;(p.A610V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

American Journal Of Medical Genetics. Part A
Dyment, David A DA; O'Donnell-Luria, Anne A; Agrawal, Pankaj B PB; Coban Akdemir, Zeynep Z; Aleck, Kyrieckos A KA; Antaki, Danny D; Al Sharhan, Hind H; Au, Ping-Yee B PB; Aydin, Hatip H; Beggs, Alan H AH; Bilguvar, Kaya K; Boerwinkle, Eric E; Brand, Harrison H; Brownstein, Catherine A CA; Buyske, Steve S; Chodirker, Bernard B; Choi, Jungmin J; Chudley, Albert E AE; Clericuzio, Carol L CL; Cox, Gerald F GF; Curry, Cynthia C; de Boer, Elke E; de Vries, Bert B A BBA; Dunn, Kathryn K; Dutmer, Cullen M CM; England, Eleina M EM; Fahrner, Jill A JA; Geckinli, Bilgen B BB; Genetti, Casie A CA; Gezdirici, Alper A; Gibson, William T WT; Gleeson, Joseph G JG; Greenberg, Cheryl R CR; Hall, April A; Hamosh, Ada A; Hartley, Taila T; Jhangiani, Shalini N SN; Karaca, Ender E; Kernohan, Kristin K; Lauzon, Julie L JL; Lewis, M E Suzanne MES; Lowry, R Brian RB; López-Giráldez, Francesc F; Matise, Tara C TC; McEvoy-Venneri, Jennifer J; McInnes, Brenda B; Mhanni, Aziz A; Garcia Minaur, Sixto S; Moilanen, Jukka J; Nguyen, An A; Nowaczyk, Malgorzata J M MJM; Posey, Jennifer E JE; Õunap, Katrin K; Pehlivan, Davut D; Pajusalu, Sander S; Penney, Lynette S LS; Poterba, Timothy T; Prontera, Paolo P; Doriqui, Maria Juliana Rodovalho MJR; Sawyer, Sarah L SL; Sobreira, Nara N; Stanley, Valentina V; Torun, Deniz D; Wargowski, David D; Witmer, P Dane PD; Wong, Isaac I; Xing, Jinchuan J; Zaki, Maha S MS; Zhang, Yeting Y; , ; , ; Boycott, Kym M KM; Bamshad, Michael J MJ; Nickerson, Deborah A DA; Blue, Elizabeth E EE; Innes, A Micheil AM
Publication Date: 2021-01

Variant appearance in text: FRY: 1829C>T
PubMed Link: 33098347
Variant Present in the following documents:
  • Main text
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