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C17orf53 c.54+447T>C
Variant ID: 17-42223068-T-C
NM_001171251.1(
C17orf53
):c.54+447T>C
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:
Integration of summary data from GWAS and eQTL studies identified novel causal BMD genes with functional predictions.
Bone
Meng, Xiang-He XH; Chen, Xiang-Ding XD; Greenbaum, Jonathan J; Zeng, Qin Q; You, Sheng-Lan SL; Xiao, Hong-Mei HM; Tan, Li-Jun LJ; Deng, Hong-Wen HW
Publication Date: 2018-08
Variant appearance in text: rs227580
PubMed Link:
29763751
Variant Present in the following documents:
Main text
View BVdb publication page