Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B4
Variant:p.W511R
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HSD17B4

NM_000414.4:p.W511R

Associated Papers

Multi-omic stratification of the missense variant cysteinome.

Desai H et al.

Biorxiv : the Preprint Server for Biology, 2023

DALIA- a comprehensive resource of Disease Alleles in Arab population.

Vatsyayan A et al.

Plos One, 2021

33439861 (PubMed )
Supplement: pone.0244567.s011.xlsx › Sheet1

Effects of naturally occurring missense mutations and G525V in the hydratase domain of human d-bifunctional protein on hydratase activity.

Tsuchida S et al.

Molecular Genetics and Metabolism Reports, 2015

Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer: results from two Australian studies and an additional validation set.

Beesley J et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2007

Crystal structure of 2-enoyl-CoA hydratase 2 from human peroxisomal multifunctional enzyme type 2.

Koski KM et al.

Journal of Molecular Biology, 2005

Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.

van Grunsven EG et al.

Human Molecular Genetics, 1999

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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."