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FDXR c.385G>C ;(p.V129L)
Variant ID: 17-72862576-C-G
NM_024417.2(
FDXR
):c.385G>C;(p.V129L)
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:
Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.
Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12
Variant appearance in text: FDXR: V129L
PubMed Link:
27001614
Variant Present in the following documents:
NIHMS753666-supplement-2.xlsx, sheet 4
View BVdb publication page