Varaico: Literature-Extracted Genetic Variants

Gene:USP48
Variant:p.R45Splc
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USP48

NM_032236.8:p.R45Splc

Associated Papers

R869C mutation in molecular motor KIF17 gene is involved in dementia with Lewy bodies.

Goldstein O et al.

Alzheimer's & Dementia (amsterdam, Netherlands), 2021

34124335 (PubMed )
Supplement: DAD2-13-e12143-s004.pdf
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