Article

Mutations in nucleoporin <i>NUP88</i> cause lethal neuromuscular disorder

2018-06-14

Abstract excerpt

Nucleoporins build the nuclear pore complex (NPC), which, as sole gate for nuclear-cytoplasmic exchange, are of outmost importance for normal cell function. Defects in the process of nucleocytoplasmic transport or in its machinery have been frequently described in human diseases, such as cancer and neurodegenerative disorders, but only in a few cases of developmental disorders. Here we report biallelic mutations i...

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Literature Corpus work: 643165db-539c-5297-9793-a073262382eb
DOI: 10.1101/347179

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