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Article

Identification of rare heterozygous missense mutations in FANCA in esophageal atresia patients using next-generation sequencing.

Gene - 30 Jun 2018

Feng Yu, Chen Runsen, Da Min, Qian Bo, Mo Xuming

Abstract excerpt

Esophageal atresia and tracheoesophageal fistula (EA/TEF) are relatively common malformations in newborns, but the etiology of EA/TEF remains unknown. Fanconi anemia (FA) complementation group A (FANCA) is a key component of the FA core complex and is essential for the activation of the DNA repair pathway. The middle region (amino acids 674-1208) of FANCA is required for its interaction with FAAP20. We performed...

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Share to DNA Mutational Analysis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29621589
DOI: 10.1016/j.gene.2018.03.097

Genes

FANCA
TEF
FAAP20

Variants

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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