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An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis
Author(s) -
Errichiello Edoardo,
Arossa Alessia,
Iasci Angela,
Villa Roberta,
Ischia Benedetta,
Pavesi Maria Angela,
Rizzuti Tommaso,
Bedeschi Maria Francesca,
Zuffardi Orsetta
Publication year - 2020
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13854
Subject(s) - nonsense , fetus , nonsense mutation , genetics , gene , medicine , computer science , bioinformatics , biology , mutation , pregnancy , missense mutation