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Article

Lethal phenotypes in Mendelian disorders.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2024

Cacheiro Pilar, Lawson Samantha, Van den Veyver Ignatia B, Marengo Gabriel, Zocche David, Murray Stephen A, Duyzend Michael, Robinson Peter N, Smedley Damian

Abstract excerpt

PURPOSE: Existing resources that characterize the essentiality status of genes are based on either proliferation assessment in human cell lines, viability evaluation in mouse knockouts, or constraint metrics derived from human population sequencing studies. Several repositories document phenotypic annotations for rare disorders; however, there is a lack of comprehensive reporting on lethal phenotypes. METHODS: We...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 38629401
DOI: 10.1016/j.gim.2024.101141
PMCID: PMC11232373

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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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