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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRAPPC11

Variant:p.Y251H

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TRAPPC11

NM_021942.6:p.Y251H

hg38:chr4:183677474 T>C

Associated Papers

TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient.

Corona-Rivera JR et al.

Molecular Genetics and Metabolism, 2024

38564972 (PubMed )

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