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Article

Secondary findings in 443 exome sequencing data.

Annals of human genetics - 1 May 2025

Branković Marija, Han Heonjong, Janković Milena, Marjanović Ana, Andrejic Nikola, Gunjić Ilija, Virić Vanja, Palibrk Aleksa, Lee Hane, Peric Stojan

Abstract excerpt

Exome sequencing (ES) may identify and report secondary findings that are unrelated to the primary disease for which the patient underwent genetic testing, but are of potential value in patient care. In this study, we evaluated 81 American College of Medical Genetics (ACMG) medically actionable genes in 443 patients with various neurological disorders. The variants identified were classified and reported...

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Share to Exome
Share to Exome Sequencing
Share to DSP gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39545406
DOI: 10.1111/ahg.12586

Genes

BRCA1
DSC2
DSP
LDLR
MSH2
MYH7
PALB2
TTN
TTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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