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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POLD1

Variant:p.W781C

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POLD1

NM_002691.4:p.W781C

hg38:chr19:50413834 G>C

Associated Papers

Genotype-Phenotype Heterogeneity Among Patients with Lipodystrophy Harboring Rare POLD1 Variants.

Hoff FW et al.

The Journal of Clinical Endocrinology and Metabolism, 2026

41742372 (PubMed )

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