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Article

Whole exome-based variant profiling and functional network characterization in neural tube defects.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 4 Jul 2025

Akcali Nermin, Yildiz Saliha Handan, Erdogan Mujgan Ozdemir, Eslamkhah Sajjad, Elmas Muhsin, Pehlivan Aysen, Solak Mustafa

Abstract excerpt

BACKGROUND: Neural tube defects (NTDs) are severe congenital malformations with complex and multifactorial etiologies involving genetic, environmental, and metabolic factors. Despite folic acid fortification efforts, a considerable proportion of cases remains unexplained at the molecular level. OBJECTIVE: This study aimed to identify rare pathogenic variants in patients with NTDs using whole exome sequencing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40613906
DOI: 10.1007/s00381-025-06884-4

Genes

ITGB2
MPDZ
ADGRG6
NARS1
PAH
PIGV
STIL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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