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Article

Utility and limitations of genetic disease databases in clinical genetics research: a neurofibromatosis 1 database example.

American journal of medical genetics. Part C, Seminars in medical genetics - 15 Feb 2004

Birch Patricia, Friedman J M

Abstract excerpt

Databases that collect clinical information on patients with particular genetic diseases can be used to investigate the clinical history of a disorder, its genetics, and genotype-phenotype correlations. A database can also serve as a valuable source of patients for studies of disease pathogenesis, variability, or treatment. We review the strengths and limitations of genetic disease databases in the context of our...

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Identifiers

PMID: 14755433
DOI: 10.1002/ajmg.c.30007

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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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