Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.R157W
Back to variants list

MTHFR

NM_005957.5:p.R157W

Associated Papers

Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-methylene tetrahydrofolate reductase (MTHFR) deficiency in patients from Pakistan.

Ahmed S et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2023

Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.

Marelli C et al.

Journal of Inherited Metabolic Disease, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."