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HP c.313C>T ;(p.H105Y)
Variant ID: 16-72092200-C-T
NM_005143.3(
HP
):c.313C>T;(p.H105Y)
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:
A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.
Oncotarget
Fang, Weiyuan W; Song, Peng P; Xie, Xinbao X; Wang, Jianshe J; Lu, Yi Y; Li, Gang G; Abuduxikuer, Kuerbanjiang K
Publication Date: 2017-10-13
Variant appearance in text: HP: 313C>T
PubMed Link:
29137425
Variant Present in the following documents:
Main text
oncotarget-08-84309.pdf
View BVdb publication page