BBS2 c.442A>C ;(p.N148H)

Variant ID: 16-56545100-T-G

NM_031885.3(BBS2):c.442A>C;(p.N148H)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

American Journal Of Human Genetics
Lindstrand, Anna A; Frangakis, Stephan S; Carvalho, Claudia M B CM; Richardson, Ellen B EB; McFadden, Kelsey A KA; Willer, Jason R JR; Pehlivan, Davut D; Liu, Pengfei P; Pediaditakis, Igor L IL; Sabo, Aniko A; Lewis, Richard Alan RA; Banin, Eyal E; Lupski, James R JR; Davis, Erica E EE; Katsanis, Nicholas N
Publication Date: 2016-08-04

Variant appearance in text: BBS: 442A>C
PubMed Link: 27486776
Variant Present in the following documents:
  • Main text
View BVdb publication page