Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.C253S
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PRKN

NM_004562.3:p.C253S

Associated Papers

Involvement of ER stress in dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 missense mutations shown by iPSC-derived oligodendrocytes.

Numasawa-Kuroiwa Y et al.

Stem Cell Reports, 2014

24936452 (PubMed )
Supplement: mmc2.pdf
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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."