Varaico: Literature-Extracted Genetic Variants

Gene:BHMT
Variant:p.G199S
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BHMT

NM_001713.3:p.G199S

Associated Papers

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

Yeroshkina K et al.

Nutrition Reviews, 2023

Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

Marini NJ et al.

American Journal of Medical Genetics. Part A, 2019

31063268 (PubMed )
Supplement: AJMG-179-1260-s005.xlsx › Table_S2

How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.

Middha S et al.

Frontiers in Genetics, 2015

26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2

Polymorphisms in genes involved in folate metabolism and orofacial clefts.

Bhaskar LV et al.

Archives of Oral Biology, 2011

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

Genetic variation in genes of folate metabolism and neural-tube defect risk.

van der Linden IJ et al.

The Proceedings of the Nutrition Society, 2006

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

Single-nucleotide polymorphisms in genes relating to homocysteine metabolism: how applicable are public SNP databases to a typical European population?

Janosíková B et al.

European Journal of Human Genetics : Ejhg, 2005

Active-site-mutagenesis study of rat liver betaine-homocysteine S-methyltransferase.

González B et al.

The Biochemical Journal, 2003

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."