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Article

Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

Brain : a journal of neurology - 1 May 2014

Fu Rong, Ceballos-Picot Irene, Torres Rosa J, Larovere Laura E, Yamada Yasukazu, Nguyen Khue V, Hegde Madhuri, Visser Jasper E, Schretlen David J, Nyhan William L, Puig Juan G, O'Neill Patrick J, Jinnah H A

Abstract excerpt

Establishing meaningful relationships between genetic variations and clinical disease is a fundamental goal for all human genetic disorders. However, these genotype-phenotype correlations remain incompletely characterized and sometimes conflicting for many diseases. Lesch-Nyhan disease is an X-li...

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Identifiers

PMID: 23975452
DOI: 10.1093/brain/awt202
PMCID: PMC3999711

Genes

HPRT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23975452-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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