Title : A SHMT1 variant decreases the risk of nonsyndromic cleft lip with or without cleft palate in Chile.

Pub. Date : 2020 Jan

PMID : 31713293






1 Functional Relationships(s)
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1 CONCLUSIONS: Owing to the rs1979277 A allele, which reduces the cytoplasmic SHMT activity and has a higher frequency in controls than in NSCL/P cases, we hypothesized that a low enzyme activity may increase the cytoplasmic concentration of folates and, therefore, explain the protective role against OFCs. Folic Acid nescient helix-loop-helix 1 Homo sapiens