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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC36A3

Variant:p.G75_P76delFs

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SLC36A3

NM_181774.4:p.G75_P76delFs

hg38:chr5:151296260 AGGAC>A

Associated Papers

Diaphyseal and Metaphyseal Modeling Defects-Clinical Findings and Identification of WRAP53 Deficiency in Craniometadiaphyseal Dysplasia.

Hao Y et al.

Frontiers in Genetics, 2021

34484289 (PubMed )

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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."