Varaico: Literature-Extracted Genetic Variants

Gene:VPS33A
Variant:p.R200P
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VPS33A

NM_022916.6:p.R200P

Associated Papers

The use of genistein and ambroxol may be an effective approach in correcting cellular dysfunctions of mucopolysaccharidosis-plus syndrome.

Cyske Z et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2025

Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.

Lipiński P et al.

Biomolecules, 2025

Impaired biogenesis of renin granules in juxtaglomerular cells of Vps33a (D251E) mutant mice.

Wang H et al.

Journal of Cell Science, 2025

Triclabendazole suppresses cellular levels of glycosaminoglycan-A potential therapeutic agent for mucopolysaccharidoses and related diseases.

Terawaki S et al.

Iscience, 2025

Cellular and molecular changes in mucopolysaccharidosis-plus syndrome caused by a homozygous c.599G > C (p.Arg200Pro) variant of the VPS33A gene.

Cyske Z et al.

Journal of Applied Genetics, 2025

Mucopolysaccharidosis-Plus Syndrome: Is This a Type of Mucopolysaccharidosis or a Separate Kind of Metabolic Disease?

Cyske Z et al.

International Journal of Molecular Sciences, 2024

Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS).

Sofronova V et al.

Genes, 2023

Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A.

Pavlova EV et al.

Human Mutation, 2022

Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients.

Lipiński P et al.

International Journal of Molecular Sciences, 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."