PKD1 c.12666G>T ;(p.L4222=)

Variant ID: 16-2139974-C-A

NM_001009944.2(PKD1):c.12666G>T;(p.L4222=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics
Stekrova, Jitka J; Reiterova, Jana J; Svobodova, Stanislava S; Kebrdlova, Vera V; Lnenicka, Petr P; Merta, Miroslav M; Viklicky, Ondrej O; Kohoutova, Milada M
Publication Date: 2009-08-17

Variant appearance in text: PKD1: L4222L
PubMed Link: 19686598
Variant Present in the following documents:
  • Main text
  • 1471-2350-10-78.pdf
View BVdb publication page