Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSMC2

Variant:p.R312K

Back to variants list

PSMC2

NM_002803.4:p.R312K

hg38:chr7:103367503 G>A

Associated Papers

Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype.

Horvers M et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2013

23062754 (PubMed )

Select a paper to view details

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."