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Article

Ontological phenotype standards for neurogenetics.

Human mutation - 1 Sept 2012

Köhler Sebastian, Doelken Sandra C, Rath Ana, Aymé Ségolène, Robinson Peter N

Abstract excerpt

Neurological disorders comprise one of the largest groups of human diseases. Due to the myriad symptoms and the extreme degree of clinical variability characteristic of many neurological diseases, the differential diagnosis process is extremely challenging. Even though most neurogenetic diseases are individually rare, collectively, the subgroup of neurogenetic disorders is large, comprising more than 2,400...

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Identifiers

PMID: 22573485
DOI: 10.1002/humu.22112

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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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