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SMN1 c.358_359delinsGC ;(p.R120A)
Variant ID: 5-70238269-AG-GC
NM_000344.3(
SMN1
):c.358_359delinsGC;(p.R120A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
How Functional Lipids Affect the Structure and Gating of Mechanosensitive MscS-like Channels.
International Journal Of Molecular Sciences
Flegler, Vanessa Judith VJ; Rasmussen, Tim T; Böttcher, Bettina B
Publication Date: 2022-12-01
Variant appearance in text: SMA: R120A
PubMed Link:
36499396
Variant Present in the following documents:
Main text
ijms-23-15071.pdf
View BVdb publication page
Flow-regulated endothelial S1P receptor-1 signaling sustains vascular development.
Developmental Cell
Jung, Bongnam B; Obinata, Hideru H; Galvani, Sylvain S; Mendelson, Karen K; Ding, Bi-sen BS; Skoura, Athanasia A; Kinzel, Bernd B; Brinkmann, Volker V; Rafii, Shahin S; Evans, Todd T; Hla, Timothy T
Publication Date: 2012-09-11
Variant appearance in text: SMA: R120A
PubMed Link:
22975328
Variant Present in the following documents:
Main text
View BVdb publication page