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FMR1 c.400C>T ;(p.P134S)
Variant ID: X-147010306-C-T
NM_002024.5(
FMR1
):c.400C>T;(p.P134S)
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:
Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder.
Molecular Autism
Wang, Lin L; Zhang, Yi Y; Li, Kuokuo K; Wang, Zheng Z; Wang, Xiaomeng X; Li, Bin B; Zhao, Guihu G; Fang, Zhenghuan Z; Ling, Zhengbao Z; Luo, Tengfei T; Xia, Lu L; Li, Yanping Y; Guo, Hui H; Hu, Zhengmao Z; Li, Jinchen J; Sun, Zhongsheng Z; Xia, Kun K
Publication Date: 2020-10-06
Variant appearance in text: FMR1: 400C>T
PubMed Link:
33023636
Variant Present in the following documents:
13229_2020_382_MOESM1_ESM.pdf
View BVdb publication page