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FMR1 c.88_90delinsATG ;(p.V30M)
Variant ID: X-147003487-GTT-ATG
NM_002024.5(
FMR1
):c.88_90delinsATG;(p.V30M)
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:
Ataxin-2 gene: a powerful modulator of neurological disorders.
Current Opinion In Neurology
Laffita-Mesa, Jose Miguel JM; Paucar, Martin M; Svenningsson, Per P
Publication Date: 2021-08-01
Variant appearance in text: FMR1: Val30Met
PubMed Link:
34010218
Variant Present in the following documents:
Main text
coneu-34-578.pdf
View BVdb publication page
Recombinant adeno-associated virus vectors in the treatment of rare diseases.
Expert Opinion On Orphan Drugs
Hastie, Eric E; Samulski, R Jude RJ
Publication Date: 2015
Variant appearance in text: FMRP: V30M
PubMed Link:
27668135
Variant Present in the following documents:
Main text
View BVdb publication page