Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.P67S
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MTHFR

NM_005957.5:p.P67S

Associated Papers

Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18.

Bartolomaeus T et al.

European Journal of Human Genetics : Ejhg, 2023

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

Reuter MS et al.

Jama Psychiatry, 2017

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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."