Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B4
Variant:p.G101Splc
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HSD17B4

NM_000414.4:p.G101Splc

Associated Papers

Two Novel HSD17B4 Heterozygous Mutations in Association With D-Bifunctional Protein Deficiency: A Case Report and Literature Review.

Chen S et al.

Frontiers in Pediatrics, 2021

Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency.

Paton BC et al.

Prenatal Diagnosis, 2002

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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."