SMN1 c.777T>C ;(p.A259=)

Variant ID: 5-70241946-T-C

NM_000344.3(SMN1):c.777T>C;(p.A259=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


High-throughput analysis revealed mutations' diverging effects on SMN1 exon 7 splicing.

Rna Biology
Souček, Přemysl P; Réblová, Kamila K; Kramárek, Michal M; Radová, Lenka L; Grymová, Tereza T; Hujová, Pavla P; Kováčová, Tatiana T; Lexa, Matej M; Grodecká, Lucie L; Freiberger, Tomáš T
Publication Date: 2019-10

Variant appearance in text: SMN1: 777T>C
PubMed Link: 31213135
Variant Present in the following documents:
  • Main text
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