Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B4
Variant:p.L507_W511delFs
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HSD17B4

NM_000414.4:p.L507_W511delFs

Associated Papers

D-bifunctional protein deficiency caused by HSD17B4 gene mutation in a neonate.

Yang SM et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2021

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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."