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Article

Association of common variants in PAH and LAT1 with non-syndromic cleft lip with or without cleft palate (NSCL/P) in the Polish population.

Archives of oral biology - 1 Apr 2014

Hozyasz Kamil K, Mostowska Adrianna, Wójcicki Piotr, Lasota Agnieszka, Wołkowicz Anna, Dunin-Wilczyńska Izabella, Jagodziński Paweł P

Abstract excerpt

BACKGROUND: Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common structural malformation with a complex and multifactorial aetiology. Associations of abnormalities in phenylalanine metabolism and orofacial clefts have been suggested. METHODS: Eight single nucleotide polymorphisms (SNPs) of genes encoding phenylalanine hydroxylase (PAH) and large neutral l-amino acid transporter type 1 (LAT1),...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24606907
DOI: 10.1016/j.archoralbio.2014.01.003

Genes

PAH

Variants

rs5030858

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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