Title : Nucleotide Variants of the BH4 Biosynthesis Pathway Gene GCH1 and the Risk of Orofacial Clefts.

Pub. Date : 2016 Jan

PMID : 26215833






1 Functional Relationships(s)
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1 This study demonstrates that the risk of NSCL/P is associated with variants of the GCH1 gene related to BH4 metabolism and provides some evidence of the relationships between morphological/functional shifts in the central nervous system and orofacial clefts. sapropterin nescient helix-loop-helix 1 Homo sapiens