Varaico: Literature-Extracted Genetic Variants

Gene:MANBA
Variant:p.R641C
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MANBA

NM_005908.4:p.R641C

Associated Papers

Rare-variant burden across lysosomal genes implicates sialylation and ganglioside metabolism in Parkinson's disease.

Senkevich K et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

41757160 (PubMed )
Supplement: media-1.xlsx › S2_Rare_variants

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

Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.

Tong W et al.

Scientific Reports, 2018

29581464 (PubMed )
Supplement: 41598_2018_23503_MOESM1_ESM.xls › P22

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-9.xlsx › S_Data_8
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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."