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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:H6PD

Variant:p.S565delFs

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H6PD

NM_004285.4:p.S565delFs

hg38:chr1:9264186 TC>T

Associated Papers

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

Tompson SW et al.

Human Genetics, 2007

17024374 (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."