Article

Proteasome subunit <i>PSMC3</i> variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

2019-11-17

Abstract excerpt

<h4>ABSTRACT</h4> Whole-genome sequencing was performed on patients with severe deafness and early-onset cataracts as part of a neurological, sensorial and cutaneous novel syndrome. A unique deep intronic homozygous variant in the PSMC3 gene (c.1127+337A>G, p.Ser376Argfs15*), encoding the 26S proteasome ATPase ring subunit 5 (Rpt5) was identified leading to the transcription of a cryptic exon. Patient’s fibrobla...

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Literature Corpus work: 79411c5d-123f-51d6-82f0-2010b865aa08
DOI: 10.1101/836015

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