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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAPT

Variant:p.Q680delFs

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MAPT

NM_001377265.1:p.Q680delFs

hg38:chr17:46010347 TC>T

Associated Papers

Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.

Bharucha-Goebel DX et al.

Neurology, 2013

23553484 (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."