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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SIN3A

Variant:p.Y144delFs

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SIN3A

NM_001145358.2:p.Y144delFs

hg38:chr15:75414246 GT>G

Associated Papers

Preserved speech variant is allelic of classic Rett syndrome.

De Bona C et al.

European Journal of Human Genetics : Ejhg, 2000

10854091 (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."