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Article

Identification and quantification of oligogenic loss-of-function disorders.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2022

Stefanski Arthur, Pérez-Palma Eduardo, Mrdjen Marko, McHugh Megan, Leu Costin, Lal Dennis

Abstract excerpt

PURPOSE: Monogenic disorders can present clinically heterogeneous symptoms. We hypothesized that in patients with a monogenic disorder caused by a large deletion, frequently additional loss-of-function (LOF)-intolerant genes are affected, potentially contributing to the phenotype. METHODS: We investigated the LOF-intolerant gene distribution across the genome and its association with benign population and...

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PMID: 34906500
DOI: 10.1016/j.gim.2021.10.026

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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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