Varaico: Literature-Extracted Genetic Variants

Gene:SLC35A3
Variant:p.R25L
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SLC35A3

NM_012243.3:p.R25L

Associated Papers

A Brazilian case arising from a homozygous canonical splice site SLC35A3 variant leading to an in-frame deletion.

Miyake N et al.

Clinical Genetics, 2021

A human case of SLC35A3-related skeletal dysplasia.

Edmondson AC et al.

American Journal of Medical Genetics. Part A, 2017

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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."