Varaico: Literature-Extracted Genetic Variants

Gene:MAN2B1
Variant:p.L78P
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MAN2B1

NM_000528.4:p.L78P

Associated Papers

Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis.

Šáhó R et al.

Journal of Inherited Metabolic Disease, 2025

Delayed diagnosis and clinical course of alpha-mannosidosis: A retrospective study of 25 patients with varying severity.

Nurse JH et al.

Genetics in Medicine Open, 2025

Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis: A phase 2, open label, multicenter study.

Guffon N et al.

Journal of Inherited Metabolic Disease, 2023

Carrier frequency and incidence of alpha-mannosidosis: population database-based study-focus on the East Asian and Korean population.

Park JE et al.

Frontiers in Genetics, 2023

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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."