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Article

Clan genomics: From OMIM phenotypic traits to genes and biology.

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

Lupski James R

Abstract excerpt

Clinical characterization of a patient phenotype has been the quintessential approach for elucidating a differential diagnosis and a hypothesis to explore a potential clinical diagnosis. This has resulted in a language of medicine and a semantic ontology, with both specialty- and subspecialty-specific lexicons, that can be challenging to translate and interpret. There is no 'Rosetta Stone' of clinical medicine...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genomic variations and chromosomal abnormalities

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Identifiers

PMID: 34405553
DOI: 10.1002/ajmg.a.62434
PMCID: PMC8530976

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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