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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OFD1

Variant:p.Y397insFs

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OFD1

NM_001330209.2:p.Y397insFs

hg38:chrX:13756665 T>TA

Associated Papers

OFD1: One gene, several disorders.

Pezzella N et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022

35112477 (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."