Varaico: Literature-Extracted Genetic Variants

Gene:SLC35D1
Variant:p.K212_E213Splc
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SLC35D1

NM_015139.3:p.K212_E213Splc

Associated Papers

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

Esen TE et al.

Molecular Syndromology, 2023

Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.

Lipiński P et al.

Diagnostics (basel, Switzerland), 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."