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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLP1

Variant:p.C169Y

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PLP1

NM_000533.5:p.C169Y

hg38:chrX:103787850 G>A

Associated Papers

Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.

Posukh OL et al.

Biomolecules, 2023

37892203 (PubMed )

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