Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.D18G
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PRKN

NM_004562.3:p.D18G

Associated Papers

The Grp170 nucleotide exchange factor executes a key role during ERAD of cellular misfolded clients.

Inoue T et al.

Molecular Biology of the Cell, 2016

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 838.321
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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."