Varaico: Literature-Extracted Genetic Variants

Gene:HUS1B
Variant:p.H130Q
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HUS1B

NM_148959.4:p.H130Q

Associated Papers

Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination.

Steinthorsdottir V et al.

Nature Structural & Molecular Biology, 2024

38287193 (PubMed )
Supplement: 41594_2023_1209_MOESM1_ESM.pdf

Whole exome sequencing identifies genetic markers of enterovirus susceptibility in East Asians.

Sung CC et al.

Frontiers in Microbiology, 2024

39234544 (PubMed )
Supplement: Data_Sheet_2.xlsx › worksheet

PARP1 Inhibitor and Trabectedin Combination Does Not Increase Tumor Mutational Burden in Advanced Sarcomas-A Preclinical and Translational Study.

Pignochino Y et al.

Cancers, 2021

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Pongor LS et al.

Scientific Reports, 2020

32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › Hypermutating

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

Genetic variation in the DNA repair genes is predictive of outcome in lung cancer.

Matakidou A et al.

Human Molecular Genetics, 2007

Search for low penetrance alleles for colorectal cancer through a scan of 1467 non-synonymous SNPs in 2575 cases and 2707 controls with validation by kin-cohort analysis of 14 704 first-degree relatives.

Webb EL et al.

Human Molecular Genetics, 2006

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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."