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.




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