Varaico: Literature-Extracted Genetic Variants

Gene:VPS52
Variant:p.Y508C
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VPS52

NM_022553.6:p.Y508C

Associated Papers

Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer's Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease Gene.

Benussi L et al.

International Journal of Molecular Sciences, 2021

Whole-Exome Sequencing Reveals Rare Germline Mutations in Patients With Hemifacial Microsomia.

Chen X et al.

Frontiers in Genetics, 2021

34079577 (PubMed )
Supplement: Table_1.XLSX › Supplementary_table_1
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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."