Varaico: Literature-Extracted Genetic Variants

Gene:MMADHC
Variant:p.Q151R
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MMADHC

NM_015702.3:p.Q151R

Associated Papers

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

Esser AJ et al.

Iscience, 2022

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."