Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.L1484P
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MYH7

NM_000257.4:p.L1484P

Associated Papers

Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.

Silverstein S et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

41646813 (PubMed )
Supplement: media-3.xlsx › Table_S3

Electrophysiological Characterization of a MYH7 Variant with Tremor Phenotype.

Vial F et al.

Movement Disorders Clinical Practice, 2023

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Töpf A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .
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