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Article

Sequence variation in folate pathway genes and risks of human cleft lip with or without cleft palate.

American journal of medical genetics. Part A - 1 Nov 2016

Marini Nicholas J, Yang Wei, Asrani Kripa, Witte John S, Rine Jasper, Lammer Edward J, Shaw Gary M

Abstract excerpt

In an effort to comprehensively interrogate genetic variation in the folate pathway for risk of cleft lip with or without cleft palate (CLP), we evaluated 504 common and rare variants in 35 folate-related genes in a panel of 330 infants with CLP and 367 non-malformed controls. Odds ratios (OR) with 95% confidence intervals were computed for common genotypes. A Case-Control Difference metric was calculated for...

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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: 27604992
DOI: 10.1002/ajmg.a.37874
PMCID: PMC5634616

Genes

BHMT
CBS
AHCYL2
BHMT2
DMGDH
MTRR
TCN2

Variants

rs4646750
rs60340837
rs1801198

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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