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Article

Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis.

European journal of human genetics : EJHG - 1 Aug 2018

Holsten Till, Bens Susanne, Oyen Florian, Nemes Karolina, Hasselblatt Martin, Kordes Uwe, Siebert Reiner, Frühwald Michael C, Schneppenheim Reinhard, Schüller Ulrich

Abstract excerpt

Germline variants that affect function are found in seven genes of the BAF chromatin-remodeling complex. They are linked to a broad range of diseases that, according to the gene affected, range from non-syndromic or syndromic neurodevelopmental disorders to low-grade tumors and malignancies. In the current meta-analysis, we evaluate genetic and clinical data from more than 400 families and 577 patients affected...

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Identifiers

PMID: 29706634
DOI: 10.1038/s41431-018-0143-1
PMCID: PMC6057970

Genes

SMARCB1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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