Varaico: Literature-Extracted Genetic Variants

Gene:MANBA
Variant:p.L484_Y485delFs
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MANBA

NM_005908.4:p.L484_Y485delFs

Associated Papers

Expanding the Phenotype Spectrum of β-Mannosidosis.

Martin Rios AM et al.

Neurology. Genetics, 2025

Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders.

Urizar E et al.

Genes, 2025

Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.

Straniero L et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

35262230 (PubMed )
Supplement: NIHMS1825319-supplement-Supplementary_Material.zip › MDS_28987_Supplementary_Table_3.xlsx › Foglio1
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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."