Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders.

doi:10.1007/s00439-013-1416-y

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Article

Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders.

Human genetics - 1 Jun 2014

Waltes Regina, Duketis Eftichia, Knapp Michael, Anney Richard J L, Huguet Guillaume, Schlitt Sabine, Jarczok Tomasz A, Sachse Michael, Kämpfer Laura M, Kleinböck Tina, Poustka Fritz, Bölte Sven, Schmötzer Gabriele, Voran Anette, Huy Ellen, Meyer Jobst, Bourgeron Thomas, Klauck Sabine M, Freitag Christine M, Chiocchetti Andreas G

Abstract excerpt

Autism spectrum disorders (ASD) are heterogeneous disorders with a high heritability and complex genetic architecture. Due to the central role of the fragile X mental retardation gene 1 protein (FMRP) pathway in ASD we investigated common functional variants of ASD risk genes regulating FMRP. We genotyped ten SNPs in two German patient sets (N = 192 and N = 254 families, respectively) and report association for...

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Identifiers

PMID: 24442360
DOI: 10.1007/s00439-013-1416-y

Genes

CAMK4
CYFIP1
GRM1

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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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