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Article

Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing.

Nephron - 1 Jan 2015

Clissold Rhian, Shields Beverley, Ellard Sian, Hattersley Andrew, Bingham Coralie

Abstract excerpt

BACKGROUND/AIMS: Diagnosing hepatocyte nuclear factor 1β (HNF1B)-related disease is a challenging task due to the phenotypic variability and frequent absence of a family history. An HNF1B score has recently been developed to help select appropriate patients for genetic testing with a negative predictive value (NPV) of 99%. We aimed at testing the clinical utility of this score in a large number of referrals for...

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Identifiers

PMID: 26022541
DOI: 10.1159/000398819
PMCID: PMC4822678

Genes

HNF1B

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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