Literature DB >> 33559987

A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease.

Anna Morgan1, Savina Dipresa2, Licia Turolla2, Martina La Bianca1, Flavio Faletra1, Giorgia Girotto1,3.   

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Year:  2020        PMID： 33559987     DOI： 10.1002/humu.24145

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  1 in total

1.  Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles.

Authors:  Catarina Monteiro; Ana Gonçalves; Jorge Oliveira; Ramon Salvado; Jorge Tomaz; Sara Morais; Margarida Lima; Rosário Santos
Journal:  Int J Mol Sci       Date:  2022-08-25       Impact factor: 6.208
  1 in total

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