ATM c.346A>T ;(p.K116*)

Variant ID: 11-108106411-A-T

NM_000051.3(ATM):c.346A>T;(p.K116*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Comprehensive Genomic Characterization of Parathyroid Cancer Identifies Novel Candidate Driver Mutations and Core Pathways.

Journal Of The Endocrine Society
Clarke, Callisia N CN; Katsonis, Panagiotis P; Hsu, Teng-Kuei TK; Koire, Amanda M AM; Silva-Figueroa, Angelica A; Christakis, Ioannis I; Williams, Michelle D MD; Kutahyalioglu, Merve M; Kwatampora, Lily L; Xi, Yuanxin Y; Lee, Jeffrey E JE; Koptez, E Scott ES; Busaidy, Naifa L NL; Perrier, Nancy D ND; Lichtarge, Olivier O
Publication Date: 2019-03-01

Variant appearance in text: ATM: K116X
PubMed Link: 30788456
Variant Present in the following documents:
  • Main text
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