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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TSC2

Variant:p.Q1440_P1441insGAG

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TSC2

NM_000548.5:p.Q1440_P1441insGAG

hg38:chr16:2084540 C>CNNNNNNNNN

Associated Papers

Clinical genome sequencing in an unbiased pediatric cohort.

Thiffault I et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30008475 (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."