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RB1 c.1892A>G ;(p.Q631R)
Variant ID: 13-49030417-A-G
NM_000321.2(
RB1
):c.1892A>G;(p.Q631R)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
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dbSNP
Publications:
Retinal organoids as models for development and diseases.
Cell Regeneration (London, England)
Zhang, Xiao X; Wang, Wen W; Jin, Zi-Bing ZB
Publication Date: 2021-11-01
Variant appearance in text: RB1: 1892A>G
PubMed Link:
34719743
Variant Present in the following documents:
13619_2021_Article_97.pdf
View BVdb publication page
The Role of Small Molecules and Their Effect on the Molecular Mechanisms of Early Retinal Organoid Development.
International Journal Of Molecular Sciences
Wagstaff, Philip E PE; Heredero Berzal, Andrea A; Boon, Camiel J F CJF; Quinn, Peter M J PMJ; Ten Asbroek, Anneloor L M A ALMA; Bergen, Arthur A AA
Publication Date: 2021-06-30
Variant appearance in text: RB1: 1892A>G
PubMed Link:
34209272
Variant Present in the following documents:
ijms-22-07081.pdf
View BVdb publication page