Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A8
Variant:p.K541R
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SLC12A8

NM_024628.6:p.K541R

Associated Papers

Whole exome sequencing in thrombophilic pedigrees to identify genetic risk factors for venous thromboembolism.

Cunha MLR et al.

Plos One, 2017

29117201 (PubMed )
Supplement: pone.0187699.s002.xlsx › SNPs_result_filter_strategies

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A0A9-01A.domain
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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."