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Article

Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.

Human mutation - 1 May 2010

Bauer Robert C, Laney Ayanna O, Smith Rosemarie, Gerfen Jennifer, Morrissette Jennifer J D, Woyciechowski Stacy, Garbarini Jennifer, Loomes Kathleen M, Krantz Ian D, Urban Zsolt, Gelb Bruce D, Goldmuntz Elizabeth, Spinner Nancy B

Abstract excerpt

Mutations in the Notch pathway ligand Jagged1 (JAG1) cause Alagille syndrome (AGS), as well as cardiac defects in seemingly nonsyndromic individuals. To estimate the frequency of JAG1 mutations in cases with right-sided cardiac defects not otherwise diagnosed with AGS, we screened 94 cases with t...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 20437614
DOI: 10.1002/humu.21231
PMCID: PMC2914103

Genes

JAG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20437614-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.PMID 20437614Read ↗

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Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome.Semantic proximity Read ↗

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