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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAPT

Variant:p.G303delFs

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MAPT

NM_005910.6:p.G303delFs

hg38:chr17:46010394 GGC>G

Associated Papers

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

Koolen DA et al.

European Journal of Human Genetics : Ejhg, 2016

26306646 (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."