Varaico: Literature-Extracted Genetic Variants

Gene:CSF2
Variant:p.K91insFs
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CSF2

NM_000758.4:p.K91insFs

Associated Papers

Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses.

Scalais E et al.

Jimd Reports, 2019

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency.

Manoli I et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.

Huemer M et al.

Orphanet Journal of Rare Diseases, 2014

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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."