Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC6
Variant:p.C64S
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EXOSC6

NM_058219.3:p.C64S

Associated Papers

Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease.

Smolders S et al.

Acta Neuropathologica Communications, 2021

33579389 (PubMed )
Supplement: 40478_2021_1121_MOESM1_ESM.docx

Identification of two serine residues essential for agonist-induced 5-HT2A receptor desensitization.

Gray JA et al.

Biochemistry, 2003

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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."