Varaico: Literature-Extracted Genetic Variants

Gene:PABPN1
Variant:p.G12W
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PABPN1

NM_004643.4:p.G12W

Associated Papers

Recent progress in oculopharyngodistal myopathy research from clinical and genetic viewpoints.

Ishiura H

Journal of Neuromuscular Diseases, 2025

A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion.

Takahashi Y et al.

Journal of Neuromuscular Diseases, 2023

CDKN2A mutations in melanoma families from Uruguay.

Larre Borges A et al.

The British Journal of Dermatology, 2009

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