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Article

A Schizophrenia-Linked KALRN Coding Variant Alters Neuron Morphology, Protein Function, and Transcript Stability.

Biological psychiatry - 15 Mar 2018

Russell Theron A, Grubisha Melanie J, Remmers Christine L, Kang Seok Kyu, Forrest Marc P, Smith Katharine R, Kopeikina Katherine J, Gao Ruoqi, Sweet Robert A, Penzes Peter

Abstract excerpt

BACKGROUND: Large-scale genetic studies have revealed that rare sequence variants, including single nucleotide variants (SNVs), in glutamatergic synaptic genes are enriched in schizophrenia patients. However, the majority are too rare to show any association with disease and have not been examined functionally. One such SNV, KALRN-P2255T, displays a penetrance that greatly exceeds that of previously identified...

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Identifiers

PMID: 29241584
DOI: 10.1016/j.biopsych.2017.10.024
PMCID: PMC5809265

Genes

KALRN

Variants

Provenance

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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