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HR c.472T>C ;(p.W158R)
Variant ID: 8-21986212-A-G
NM_005144.4(
HR
):c.472T>C;(p.W158R)
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 lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis.
Cellular And Molecular Life Sciences : Cmls
Basak, I I; Wicky, H E HE; McDonald, K O KO; Xu, J B JB; Palmer, J E JE; Best, H L HL; Lefrancois, S S; Lee, S Y SY; Schoderboeck, L L; Hughes, S M SM
Publication Date: 2021-05
Variant appearance in text: HR: W158R
PubMed Link:
33792748
Variant Present in the following documents:
18_2021_Article_3813.pdf
View BVdb publication page