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RET c.129_130insA ;(p.Q44Tfs*18)
Variant ID: 10-43595962-C-CA
NM_020975.4(
RET
):c.129_130insA;(p.Q44Tfs*18)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.
Human Mutation
Cardoso, Luís L; Stevenson, Mark M; Thakker, Rajesh V RV
Publication Date: 2017-12
Variant appearance in text: RET: 129insA
PubMed Link:
28881068
Variant Present in the following documents:
Main text
HUMU-38-1621.pdf
View BVdb publication page