Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.G234D
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PSAP

NM_002778.4:p.G234D

Associated Papers

Profiling the Biochemical Signature of GBA-Related Parkinson's Disease in Peripheral Blood Mononuclear Cells.

Avenali M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

33617695 (PubMed )
Supplement: MDS-36-1267-s001.docx

Mutation analysis of haemophilia B in the Irish population: increased prevalence caused by founder effect.

Jenkins PV et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008

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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."