Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.P364R
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MTHFR

NM_005957.5:p.P364R

Associated Papers

Phenotypic Features and Genetic Findings in a Cohort of Italian Pseudoxanthoma Elasticum Patients and Update of the Ophthalmologic Evaluation Score.

Boraldi F et al.

Journal of Clinical Medicine, 2021

Can APOE and MTHFR polymorphisms have an influence on the severity of cardiovascular manifestations in Italian Pseudoxanthoma elasticum affected patients?

Boraldi F et al.

Molecular Genetics and Metabolism Reports, 2014

27896127 (PubMed )
Supplement: mmc1.docx
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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."