RET c.418C>T ;(p.P140S)

Variant ID: 10-43597870-C-T

NM_020975.4(RET):c.418C>T;(p.P140S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation.

Journal Of Human Genetics
Carter, Tonia C TC; Kay, Denise M DM; Browne, Marilyn L ML; Liu, Aiyi A; Romitti, Paul A PA; Kuehn, Devon D; Conley, Mary R MR; Caggana, Michele M; Druschel, Charlotte M CM; Brody, Lawrence C LC; Mills, James L JL
Publication Date: 2012-08

Variant appearance in text: RET: 418C>T; P140S
PubMed Link: 22648184
Variant Present in the following documents:
  • Main text
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