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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SETD2

Variant:p.D1363insFs

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SETD2

NM_014159.7:p.D1363insFs

hg38:chr3:47120548 T>TC

Associated Papers

Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency.

Guerrini-Rousseau L et al.

Journal of Medical Genetics, 2024

37775264 (PubMed )

Supplement: jmg-2023-109235supp002.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."