Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.F290delFs
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HSD17B6

NM_003725.4:p.F290delFs

Associated Papers

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.

Haghighi A et al.

Orphanet Journal of Rare Diseases, 2014

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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."