RB1 c.985A>G ;(p.K329E)

Variant ID: 13-48941675-A-G

NM_000321.2(RB1):c.985A>G;(p.K329E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics
Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H
Publication Date: 2013-10

Variant appearance in text: RB1: Lys329Glu
PubMed Link: 23820649
Variant Present in the following documents:
  • Main text
  • 439_2013_Article_1331.pdf
View BVdb publication page