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Article

Functional Evaluation of Neural Tube Defect-Related Missense Mutations Using In Silico Methods.

Birth defects research - 1 Feb 2025

Biterge Sut Burcu

Abstract excerpt

BACKGROUND: Neural tube formation is one of the most important developmental events as it gives rise to the key organs comprising the central nervous system. Failure in the proper closure of the neural tube results in congenital abnormalities, namely neural tube defects (NTDs). Previous studies have identified several single nucleotide variations that are considered risk factors and established a genetic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39950581
DOI: 10.1002/bdr2.2453

Genes

CELSR1
DVL2
FUZ
FZD6
LRP6
MED12
MTHFR
MTRR
PACS1
PARD3
VANGL1
VANGL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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