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Article

Confirmation of a non-synonymous SNP in PNPLA8 as a candidate causal mutation for Weaver syndrome in Brown Swiss cattle.

Genetics, selection, evolution : GSE - 18 Mar 2016

Kunz Elisabeth, Rothammer Sophie, Pausch Hubert, Schwarzenbacher Hermann, Seefried Franz R, Matiasek Kaspar, Seichter Doris, Russ Ingolf, Fries Ruedi, Medugorac Ivica

Abstract excerpt

BACKGROUND: Bovine progressive degenerative myeloencephalopathy (Weaver syndrome) is a neurodegenerative disorder in Brown Swiss cattle that is characterized by progressive hind leg weakness and ataxia, while sensorium and spinal reflexes remain unaffected. Although the causal mutation has not been identified yet, an indirect genetic test based on six microsatellite markers and consequent exclusion of Weaver...

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Source

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Identifiers

PMID: 26992691
DOI: 10.1186/s12711-016-0201-5
PMCID: PMC4797220

Genes

PNPLA8

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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