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Article

History of the methodology of disease gene identification.

American journal of medical genetics. Part A - 1 Nov 2021

Antonarakis Stylianos E

Abstract excerpt

The past 45 years have witnessed a triumph in the discovery of genes and genetic variation that cause Mendelian disorders due to high impact variants. Important discoveries and organized projects have provided the necessary tools and infrastructure for the identification of gene defects leading to thousands of monogenic phenotypes. This endeavor can be divided in three phases in which different laboratory...

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Identifiers

PMID: 34159713
DOI: 10.1002/ajmg.a.62400
PMCID: PMC8596769

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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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