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RB1 c.990T>A ;(p.D330E)
Variant ID: 13-48941680-T-A
NM_000321.2(
RB1
):c.990T>A;(p.D330E)
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:
The roles of intrinsic disorder-based liquid-liquid phase transitions in the "Dr. Jekyll-Mr. Hyde" behavior of proteins involved in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.
Autophagy
Uversky, Vladimir N VN
Publication Date: 2017
Variant appearance in text: RB1: D330E
PubMed Link:
28980860
Variant Present in the following documents:
Main text
View BVdb publication page