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An extremely severe phenotype attributed to WDR81 nonsense mutations
Author(s) -
Cappuccio Gerarda,
Pinelli Michele,
Torella Annalaura,
Vitiello Giuseppina,
D'Amico Alessandra,
Alagia Marianna,
Del Giudice Ennio,
Nigro Vincenzo,
BrunettiPierri Nicola
Publication year - 2017
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.25058
Subject(s) - medical genetics , nonsense , nonsense mutation , medicine , genetics , biology , phenotype , missense mutation , gene
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