Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.L614F
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MYH7

NM_000257.4:p.L614F

Associated Papers

Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies.

Bachmann C et al.

Brain Communications, 2022

36196089 (PubMed )
Supplement: fcac224_supplementary_data.docx

RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene.

Shepherd S et al.

Journal of Medical Genetics, 2004

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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."