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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SDK1

Variant:p.E144E

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SDK1

NM_152744.4:p.E144E

hg38:chr7:3619213 G>A

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."