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Article

Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model.

PloS one - 1 Jan 2018

Weihbrecht Katie, Goar Wesley A, Carter Calvin S, Sheffield Val C, Seo Seongjin

Abstract excerpt

Nephronophthisis-related ciliopathies (NPHP-RC) are a group of disorders that present with end-stage renal failure in childhood/adolescence, kidney cysts, retinal degeneration, and cerebellar hypoplasia. One disorder that shares clinical features with NPHP-RC is Bardet-Biedl Syndrome (BBS). Serologically defined colon cancer antigen 8 (SDCCAG8; also known as NPHP10 and BBS16) is an NPHP gene that is also...

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Identifiers

PMID: 29444170
DOI: 10.1371/journal.pone.0192755
PMCID: PMC5812623

Genes

SDCCAG8
AKT3

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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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