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Article

NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot.

American journal of medical genetics. Part A - 1 Mar 2018

Duran Ivan, Tenney Jessica, Warren Carmen M, Sarukhanov Anna, Csukasi Fabiana, Skalansky Mark, Iruela-Arispe Maria L, Krakow Deborah

Abstract excerpt

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart defect. It involves anatomical abnormalities that change the normal flow of blood through the heart resulting in low oxygenation. Although not all of the underlying causes of TOF are completely understood, the disease has been associated with varying genetic etiologies including chromosomal abnormalities and Mendelian disorders, but can also...

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Source

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Identifiers

PMID: 29363855
DOI: 10.1002/ajmg.a.38600
PMCID: PMC7836020

Genes

NRP1

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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