Varaico: Literature-Extracted Genetic Variants

Gene:LMBRD1
Variant:p.P220del1
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LMBRD1

NM_018368.4:p.P220del1

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

Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria.

Wei Y et al.

Journal of Neurology, 2019

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."