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Article

OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism.

PloS one - 1 Jan 2017

Caduff Madleina, Bauer Anina, Jagannathan Vidhya, Leeb Tosso

Abstract excerpt

We investigated a German Spitz family where the mating of a black male to a white female had yielded three puppies with an unexpected light brown coat color, lightly pigmented lips and noses, and blue eyes. Combined linkage and homozygosity analysis based on a fully penetrant monogenic autosomal recessive mode of inheritance identified a critical interval of 15 Mb on chromosome 3. We obtained whole genome...

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Source

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Identifiers

PMID: 28973042
DOI: 10.1371/journal.pone.0185944
PMCID: PMC5626509

Genes

OCA2

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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