Varaico: Literature-Extracted Genetic Variants

Gene:MTR
Variant:p.D189insFs
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MTR

NM_000254.3:p.D189insFs

Associated Papers

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

He R et al.

Neurology, 2020

Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series.

Wang SJ et al.

Neuropsychiatric Disease and Treatment, 2019

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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."