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DMD c.525T>G ;(p.S175R)
Variant ID: X-32834590-A-C
NM_004006.2(
DMD
):c.525T>G;(p.S175R)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Molecular Neurobiology
Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z
Publication Date: 2021-08
Variant appearance in text: DMD: S175R
PubMed Link:
33860439
Variant Present in the following documents:
12035_2021_2377_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.
Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09
Variant appearance in text: DMD: S175R
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Common and Rare Genetic Risk Factors Converge in Protein Interaction Networks Underlying Schizophrenia.
Frontiers In Genetics
Chang, Xiao X; Lima, Leandro de Araujo LA; Liu, Yichuan Y; Li, Jin J; Li, Qingqin Q; Sleiman, Patrick M A PMA; Hakonarson, Hakon H
Publication Date: 2018
Variant appearance in text: DMD: S175R
PubMed Link:
30323833
Variant Present in the following documents:
Table_1.xlsx, sheet 1
View BVdb publication page