PKD1 c.674C>A ;(p.S225*)

Variant ID: 16-2168319-G-T

NM_001009944.2(PKD1):c.674C>A;(p.S225*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.

American Journal Of Human Genetics
Rossetti, S S; Strmecki, L L; Gamble, V V; Burton, S S; Sneddon, V V; Peral, B B; Roy, S S; Bakkaloglu, A A; Komel, R R; Winearls, C G CG; Harris, P C PC
Publication Date: 2001-01

Variant appearance in text: PKD1: S225X
PubMed Link: 11115377
Variant Present in the following documents:
  • Main text
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