PKD1 c.12632A>C ;(p.E4211A)

Variant ID: 16-2140008-T-G

NM_001009944.2(PKD1):c.12632A>C;(p.E4211A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes.

European Journal Of Human Genetics : Ejhg
Wills, Edgar S ES; Cnossen, Wybrich R WR; Veltman, Joris A JA; Woestenenk, Rob R; Steehouwer, Marloes M; Salomon, Jody J; Te Morsche, René H M RH; Huch, Meritxell M; Hehir-Kwa, Jayne Y JY; Banning, Martijn J MJ; Pfundt, Rolph R; Roepman, Ronald R; Hoischen, Alexander A; Drenth, Joost P H JP
Publication Date: 2016-12

Variant appearance in text: PKD1: 12632A>C; Glu4211Ala
PubMed Link: 27552964
Variant Present in the following documents:
  • Main text
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