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F2 c.994G>C ;(p.G332R)
Variant ID: 11-46748167-G-C
NM_000506.3(
F2
):c.994G>C;(p.G332R)
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:
The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.
Acta Neuropathologica Communications
Boizot, Alexia A; Talmat-Amar, Yasmina Y; Morrogh, Deborah D; Kuntz, Nancy L NL; Halbert, Cecile C; Chabrol, Brigitte B; Houlden, Henry H; Stojkovic, Tanya T; Schulman, Brenda A BA; Rautenstrauss, Bernd B; Bomont, Pascale P
Publication Date: 2014-04-24
Variant appearance in text: F2: G332R
PubMed Link:
24758703
Variant Present in the following documents:
Main text
2051-5960-2-47.pdf
View BVdb publication page