BBS7 c.1468C>A ;(p.P490T)

Variant ID: 4-122756342-G-T

NM_176824.2(BBS7):c.1468C>A;(p.P490T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries.

Genes
De Ita, Marlon M; Gaytán-Cervantes, Javier J; Cisneros, Bulmaro B; Araujo, María Antonieta MA; Huicochea-Montiel, Juan Carlos JC; Cárdenas-Conejo, Alan A; Lazo-Cárdenas, Charles César CC; Ramírez-Portillo, César Iván CI; Feria-Kaiser, Carina C; Peregrino-Bejarano, Leoncio L; Yáñez-Gutiérrez, Lucelli L; González-Torres, Carolina C; Rosas-Vargas, Haydeé H
Publication Date: 2022-09-16

Variant appearance in text: BBS7: 1468C>A; P490T
PubMed Link: 36140829
Variant Present in the following documents:
  • Main text
  • genes-13-01662.pdf
View BVdb publication page