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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC35D1

Variant:p.G300V

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SLC35D1

NM_015139.3:p.G300V

hg38:chr1:67009145 C>A

Associated Papers

A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene.

Esen TE et al.

Molecular Syndromology, 2023

38058750 (PubMed )

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