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Article

Population based frequency of naturally occurring loss-of-function variants in genes associated with platelet disorders.

Journal of thrombosis and haemostasis : JTH - 1 Jan 2021

Oved Joseph H, Lambert Michele P, Kowalska M Anna, Poncz Mortimer, Karczewski Konrad J

Abstract excerpt

Essentials The frequency of predicted loss-of-function (pLoF) variants in platelet-associated genes is unknown in the general population. Datasets like Genome Aggregation Database allow us to analyze pLoF variants with increased resolution. Expected prevalence of significant pLoF variants in platelet-associated genes in 0.329% in the general population. Platelet-associated genes that cause phenotypes due to...

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Identifiers

PMID: 33006441
DOI: 10.1111/jth.15113

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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