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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SH3TC2

Variant:p.A673T

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SH3TC2

NM_024577.4:p.A673T

hg38:chr5:149027715 C>T

Associated Papers

Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome.

Thimm A et al.

Journal of the Peripheral Nervous System : Jpns, 2020

32077159 (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."