BBS2 c.626T>C ;(p.L209P)

Variant ID: 16-56540123-A-G

NM_031885.3(BBS2):c.626T>C;(p.L209P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology.

Bmc Medical Genomics
Bai, Zhouxian Z; Xie, Yanchuan Y; Liu, Lina L; Shao, Jingzhi J; Liu, Yuying Y; Kong, Xiangdong X
Publication Date: 2021-03-29

Variant appearance in text: BBS2: 626T>C; L209P
PubMed Link: 33781268
Variant Present in the following documents:
  • 12920_2021_Article_935.pdf
View BVdb publication page



VaRank: a simple and powerful tool for ranking genetic variants.

Peerj
Geoffroy, Véronique V; Pizot, Cécile C; Redin, Claire C; Piton, Amélie A; Vasli, Nasim N; Stoetzel, Corinne C; Blavier, André A; Laporte, Jocelyn J; Muller, Jean J
Publication Date: 2015

Variant appearance in text: BBS: L209P
PubMed Link: 25780760
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

Journal Of Medical Genetics
Redin, Claire C; Le Gras, Stéphanie S; Mhamdi, Oussema O; Geoffroy, Véronique V; Stoetzel, Corinne C; Vincent, Marie-Claire MC; Chiurazzi, Pietro P; Lacombe, Didier D; Ouertani, Ines I; Petit, Florence F; Till, Marianne M; Verloes, Alain A; Jost, Bernard B; Chaabouni, Habiba Bouhamed HB; Dollfus, Helene H; Mandel, Jean-Louis JL; Muller, Jean J
Publication Date: 2012-08

Variant appearance in text: BBS: L209P
PubMed Link: 22773737
Variant Present in the following documents:
  • Main text
  • jmedgenet-2012-100875.pdf
View BVdb publication page