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NPC1 c.3008T>G ;(p.L1003R)
Variant ID: 18-21118539-A-C
NM_000271.4(
NPC1
):c.3008T>G;(p.L1003R)
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:
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.
International Journal Of Molecular Sciences
Seker Yilmaz, Berna B; Baruteau, Julien J; Rahim, Ahad A AA; Gissen, Paul P
Publication Date: 2020-07-17
Variant appearance in text: NPC1: 3008T>G; L1003R
PubMed Link:
32709131
Variant Present in the following documents:
Main text
ijms-21-05059.pdf
View BVdb publication page