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Article

Rare genetic variants in SMAP1, B3GAT2, and RIMS1 contribute to pediatric venous thromboembolism.

Blood - 9 Feb 2017

Rühle Frank, Witten Anika, Barysenka Andrei, Huge Andreas, Arning Astrid, Heller Christine, Krümpel Anne, Mesters Rolf, Franke Andre, Lieb Wolfgang, Riemenschneider Mona, Hiersche Milan, Limperger Verena, Nowak-Göttl Ulrike, Stoll Monika

Abstract excerpt

Recent genome-wide association studies (GWAS) have confirmed known risk mutations for venous thromboembolism (VTE) and identified a number of novel susceptibility loci in adults. Here we present a GWAS in 212 nuclear families with pediatric VTE followed by targeted next-generation sequencing (NGS) to identify causative mutations contributing to the association. Three single nucleotide polymorphisms (SNPs)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28011674
DOI: 10.1182/blood-2016-07-728840

Genes

RIMS1
SMAP1
ARF6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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