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Article

Rare copy number variations of planar cell polarity genes are associated with human neural tube defects.

Neurogenetics - 1 Jul 2020

Tian Tian, Lei Yunping, Chen Yongyan, Guo Yinnan, Jin Lei, Finnell Richard H, Wang Linlin, Ren Aiguo

Abstract excerpt

Select single-nucleotide variants in planar cell polarity (PCP) genes are associated with increased risk for neural tube defects (NTDs). However, whether copy number variants (CNVs) in PCP genes contribute to NTDs is unknown. Considering that CNVs are implicated in several human developmental disorders, we hypothesized that CNVs in PCP genes may be causative factors to human NTDs. DNA from umbilical cord tissues...

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Identifiers

PMID: 32388773
DOI: 10.1007/s10048-020-00613-6

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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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