SMN1 c.126A>C ;(p.A42=)

Variant ID: 5-70234710-A-C

NM_000344.3(SMN1):c.126A>C;(p.A42=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A Case of Submitral Aneurysm Presenting with Severe Mitral Regurgitation and Shock in an African Male Patient with Rheumatic Heart Disease.

Case (Philadelphia, Pa.)
Barnawi, Amjad A; Al Otaibi, Abdullah A; Soliman, Ahmed A; Al Rifae, Mustafa M; Al Baradie, Abdelaziz A; Ghazal, Sami S
Publication Date: 2021-08

Variant appearance in text: SMA: A42A
PubMed Link: 34430771
Variant Present in the following documents:
  • Main text
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