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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SRD5A3

Variant:p.R143K

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SRD5A3

NM_024592.5:p.R143K

hg38:chr4:55364137 G>A

Associated Papers

Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation.

Sabry S et al.

Bmc Research Notes, 2023

37069668 (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."