Varaico: Literature-Extracted Genetic Variants

Gene:PSMG1
Variant:p.R190fs
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PSMG1

NM_003720.4:p.R190fs

Associated Papers

Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations.

Sbardella D et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020

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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."