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PC c.1711_1712delinsTA ;(p.R571*)
Variant ID: 11-66620023-CT-TA
NM_001040716.1(
PC
):c.1711_1712delinsTA;(p.R571*)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis.
Frontiers In Neurology
Federighi, Pamela P; Ramat, Stefano S; Rosini, Francesca F; Pretegiani, Elena E; Federico, Antonio A; Rufa, Alessandra A
Publication Date: 2017
Variant appearance in text: PC: R571X
PubMed Link:
29170652
Variant Present in the following documents:
Main text
fneur-08-00596.pdf
View BVdb publication page