BBS2 c.1175G>A ;(p.G392E)

Variant ID: 16-56535315-C-T

NM_031885.3(BBS2):c.1175G>A;(p.G392E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.

Scientific Reports
Bravo-Gil, Nereida N; González-Del Pozo, María M; Martín-Sánchez, Marta M; Méndez-Vidal, Cristina C; Rodríguez-de la Rúa, Enrique E; Borrego, Salud S; Antiñolo, Guillermo G
Publication Date: 2017-02-03

Variant appearance in text: BBS2: 1175G>A; G392E
PubMed Link: 28157192
Variant Present in the following documents:
  • Main text
  • srep41937.pdf
View BVdb publication page