RB1 c.1334G>A ;(p.R445Q)

Variant ID: 13-48953731-G-A

NM_000321.2(RB1):c.1334G>A;(p.R445Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: RB1: R445Q
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page