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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SH3YL1

Variant:p.G332S

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SH3YL1

NM_015677.4:p.G332S

hg38:chr2:218846 C>T

Associated Papers

Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.

Chkioua L et al.

Bmc Medical Genomics, 2021

34425818 (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."