Varaico: Literature-Extracted Genetic Variants

Gene:BHMT
Variant:p.Q406H
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BHMT

NM_001713.3:p.Q406H

Associated Papers

Betaine consumption as a new clinical approach to treatment and prophylaxis of folate-related pathologies.

Yeroshkina K et al.

Nutrition Reviews, 2023

New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate.

Martinelli M et al.

European Journal of Oral Sciences, 2011

Single nucleotide polymorphisms in homocysteine metabolism pathway genes: association of CHDH A119C and MTHFR C677T with hyperhomocysteinemia.

Kumar J et al.

Circulation. Cardiovascular Genetics, 2009

20031640 (PubMed )
Supplement: 841411_supplemental_material.pdf

Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts?

Zhu H et al.

American Journal of Medical Genetics. Part A, 2005

Genetics of hyperhomocysteinaemia in cardiovascular disease.

Lievers KJ et al.

Annals of Clinical Biochemistry, 2003

Betaine-homocysteine methyltransferase (BHMT): genomic sequencing and relevance to hyperhomocysteinemia and vascular disease in humans.

Heil SG et al.

Molecular Genetics and Metabolism, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."