SMN1 c.632G>C ;(p.G211A)

Variant ID: 5-70240489-G-C

NM_000344.3(SMN1):c.632G>C;(p.G211A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example.

The Application Of Clinical Genetics
Yang, Yuqi Y; Wang, Yu Y; Zhou, Lingna L; Long, Wei W; Yu, Bin B; Wang, Huaiyan H
Publication Date: 2022

Variant appearance in text: SMN1: G211A
PubMed Link: 35611242
Variant Present in the following documents:
  • Main text
  • tacg-15-39.pdf
View BVdb publication page



Decoding a cancer-relevant splicing decision in the RON proto-oncogene using high-throughput mutagenesis.

Nature Communications
Braun, Simon S; Enculescu, Mihaela M; Setty, Samarth T ST; Cortés-López, Mariela M; de Almeida, Bernardo P BP; Sutandy, F X Reymond FXR; Schulz, Laura L; Busch, Anke A; Seiler, Markus M; Ebersberger, Stefanie S; Barbosa-Morais, Nuno L NL; Legewie, Stefan S; König, Julian J; Zarnack, Kathi K
Publication Date: 2018-08-17

Variant appearance in text: SMN1: G211A
PubMed Link: 30120239
Variant Present in the following documents:
  • 41467_2018_Article_5748.pdf
View BVdb publication page