Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B1
Variant:p.A238V
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HSD17B1

NM_000413.4:p.A238V

Associated Papers

An explainable model of host genetic interactions linked to COVID-19 severity.

Onoja A et al.

Communications Biology, 2022

36289370 (PubMed )
Supplement: 42003_2022_4073_MOESM4_ESM.xlsx › S1

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.

Pagnamenta AT et al.

Human Molecular Genetics, 2015

25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2

Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Maciąg A et al.

Bmc Genetics, 2015

25888430 (PubMed )
Supplement: 12863_2015_177_MOESM1_ESM.xls › Sheet1

Characterization of HSD17B1 sequence variants in breast cancer cases from French Canadian families with high risk of breast and ovarian cancer.

Plourde M et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2008

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

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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."