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Article

Genotype-to-phenotype analysis: search for clinical characteristics of a missense change in the GABAA-beta 1 receptor gene.

American journal of medical genetics - 16 Feb 1996

Sobell J L, Sigurdson D C, Heston L L, Byerley W F, Sommer S S

Abstract excerpt

Genotype-to-phenotype analysis reverses the classical approach to genetic disease in which an unknown genotype is sought for a known phenotype. This paper provides an example of genotype-to-phenotype analysis for the possible psychiatric effects of a missense mutation (H396Q) at a highly conserved residue of the beta 1 subunit gene of the gamma aminobutyric acid type A receptor. DNA samples from 1,507 Caucasians...

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Source

Identifiers

PMID: 8678120
DOI: 10.1002/(SICI)1096-8628(19960216)67:1<81::AID-AJMG14>3.0.CO;2-L

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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