Varaico: Literature-Extracted Genetic Variants

Gene:MYL1
Variant:p.G160Splc
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MYL1

NM_079420.3:p.G160Splc

Associated Papers

Novel MYL1 Intron Variant With Expanded Phenotype.

Barington M et al.

American Journal of Medical Genetics. Part A, 2026

Bi-allelic mutations in MYL1 cause a severe congenital myopathy.

Ravenscroft G et al.

Human Molecular Genetics, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."