Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.A220del1
Back to variants list

MTHFR

NM_005957.5:p.A220del1

Associated Papers

Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease.

Esser AJ et al.

Iscience, 2022

Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency.

He R et al.

Neurology, 2020

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."