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Article

Rare LRP6 variants identified in spina bifida patients.

Human mutation - 1 Mar 2015

Lei Yunping, Fathe Kristin, McCartney Danielle, Zhu Huiping, Yang Wei, Ross M Elizabeth, Shaw Gary M, Finnell Richard H

Abstract excerpt

Several single-nucleotide variants (SNVs) in low-density lipoprotein receptor-related protein 6 (Lrp6) cause neural tube defects (NTDs) in mice. We therefore examined LRP6 in 192 unrelated infants from California with the NTD, spina bifida, and found four heterozygous missense SNVs, three of which were predicted to be deleterious, among NTD cases and not in 190 ethnically matched nonmalformed controls. Parents...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25546815
DOI: 10.1002/humu.22750
PMCID: PMC4361299

Genes

LRP6

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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