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Article

Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics.

Human mutation - 1 Nov 2017

Wiel Laurens, Venselaar Hanka, Veltman Joris A, Vriend Gert, Gilissen Christian

Abstract excerpt

Whole exomes of patients with a genetic disorder are nowadays routinely sequenced but interpretation of the identified genetic variants remains a major challenge. The increased availability of population-based human genetic variation has given rise to measures of genetic tolerance that have been used, for example, to predict disease-causing genes in neurodevelopmental disorders. Here, we investigated whether...

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Identifiers

PMID: 28815929
DOI: 10.1002/humu.23313
PMCID: PMC5656839

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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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