Varaico: Literature-Extracted Genetic Variants

Gene:HCFC1
Variant:p.L196L
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HCFC1

NM_005334.3:p.L196L

Associated Papers

Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.

Marelli C et al.

Journal of Inherited Metabolic Disease, 2022

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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."