Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.E252V
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PINK1

NM_032409.3:p.E252V

Associated Papers

Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Giau VV et al.

Scientific Reports, 2019

31182772 (PubMed )
Supplement: 41598_2019_44848_MOESM1_ESM.pdf

A pathogenic PSEN2 p.His169Asn mutation associated with early-onset Alzheimer's disease.

Giau VV et al.

Clinical Interventions in Aging, 2018

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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."