RET c.1178T>A ;(p.F393Y)

Variant ID: 10-43604593-T-A

NM_020975.4(RET):c.1178T>A;(p.F393Y)

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: RET: 1178T>A
PubMed Link: 23820649
Variant Present in the following documents:
  • Main text
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