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Article

Brief Report: Whole-Exome Sequencing for Identification of Potential Causal Variants for Diffuse Cutaneous Systemic Sclerosis.

Arthritis & rheumatology (Hoboken, N.J.) - 1 Sept 2016

Mak Angel C Y, Tang Paul L F, Cleveland Clare, Smith Melanie H, Kari Connolly M, Katsumoto Tamiko R, Wolters Paul J, Kwok Pui-Yan, Criswell Lindsey A

Abstract excerpt

OBJECTIVE: Scleroderma is a genetically complex autoimmune disease with substantial phenotypic heterogeneity. Previous genome-wide association studies have identified common genetic variants associated with disease risk, but these studies are not designed to capture rare or potential causal variants. Our goal was to identify rare as well as common genetic variants in patients with diffuse cutaneous systemic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27111861
DOI: 10.1002/art.39721
PMCID: PMC5568050

Genes

TERT
XRCC4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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