Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.L358fs
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PRKN

NM_004562.3:p.L358fs

Associated Papers

Parkin truncating variants result in a loss-of-function phenotype.

Santos M et al.

Scientific Reports, 2019

Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD.

Morais S et al.

Neurology. Genetics, 2016

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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."