CSMD1 c.818+87802G>T

Variant ID: 8-3767623-C-A

NM_033225.5(CSMD1):c.818+87802G>T

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility.

Nature Communications
Lee, Arthur S AS; Rusch, Jannette J; Lima, Ana C AC; Usmani, Abul A; Huang, Ni N; Lepamets, Maarja M; Vigh-Conrad, Katinka A KA; Worthington, Ronald E RE; Mägi, Reedik R; Wu, Xiaobo X; Aston, Kenneth I KI; Atkinson, John P JP; Carrell, Douglas T DT; Hess, Rex A RA; O'Bryan, Moira K MK; Conrad, Donald F DF
Publication Date: 2019-10-11

Variant appearance in text: rs2688326
PubMed Link: 31604923
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_12522.pdf
View BVdb publication page