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Exploring the complexity of systemic sclerosis etiology by trio whole genome sequencing.

Human molecular genetics - 19 Sept 2024

Dai Hongzheng, Ketkar Shamika, Tan Taotao, Atkinson Elizabeth G, Burrage Lindsay, Worley Kim C, Christopher Brian, Lyons Marka A, Assassi Shervin, Mayes Maureen D, Lee Brendan

Abstract excerpt

Systemic sclerosis (SSc) is a heterogeneous rare autoimmune fibrosing disorder affecting connective tissue. The etiology of systemic sclerosis is largely unknown and many genes have been suggested as susceptibility loci of modest impact by genome-wide association study (GWAS). Multiple factors can contribute to the pathological process of the disease, which makes it more difficult to identify possible...

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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: 38970828
DOI: 10.1093/hmg/ddae105
PMCID: PMC11413644

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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