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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STAC3

Variant:p.A214V

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STAC3

NM_145064.3:p.A214V

hg38:chr12:57245174 G>A

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

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