Varaico: Literature-Extracted Genetic Variants

Gene:HFM1
Variant:p.S115P
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HFM1

NM_001017975.6:p.S115P

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

Characterizing mutagenic effects of recombination through a sequence-level genetic map.

Halldorsson BV et al.

Science (new York, N.y.), 2019

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 1._nonsynonymous_variants

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1

Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.

Holmen OL et al.

Nature Genetics, 2014

24633158 (PubMed )
Supplement: NIHMS570373-supplement-1.pdf
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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."