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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:H6PD

Variant:p.Q392insFs

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H6PD

NM_004285.4:p.Q392insFs

hg38:chr1:9263668 A>AT

Associated Papers

Hereditary intrinsic factor deficiency in China caused by a novel mutation in the intrinsic factor gene-a case report.

Ruan J et al.

Bmc Medical Genetics, 2020

33172407 (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."