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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VPS25

Variant:p.K45Q

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VPS25

NM_032353.4:p.K45Q

hg38:chr17:42773812 A>C

Associated Papers

Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.

Codina-Sola M et al.

Journal of Medical Genetics, 2019

31413120 (PubMed )

Supplement: jmedgenet-2019-106080supp001.pdf

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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."