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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPEF1

Variant:p.M1insFs

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PPEF1

NM_001377996.1:p.M1insFs

hg38:chrX:18707782 T>TG

Associated Papers

Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders.

Hiatt SM et al.

Hgg Advances, 2021

33937879 (PubMed )

Supplement: mmc8.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."