Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.P78Q
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MMACHC

NM_015506.3:p.P78Q

Associated Papers

Hydrocephalus presented as the prominent symptom of severe 5,10-methylenetetrahydrofolate reductase deficiency in an infant: A case report.

Ding Y et al.

Medicine International, 0

36699103 (PubMed )
Supplement: Supplementary_Data.pdf
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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."