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ProteomicsInteractome analysis of FAM50A via affinity purification coupled to mass spectrometry
FAM50A missense variants are present in Armfield XLID syndrome patients. Zebrafish lacking fam50a display related phenotypes and show dysregulation of the transcriptome, increased spliceosome mRNAs and a preponderance of 3’ alternative splicing events, suggesting a role for Fam50a in the spliceosome...
ORGANISM(S): Homo sapiens (Human) 
2020-05-08 | PXD017642 | Pride
Protein interactions Streptavidin affinity purification Fam50a Nanolc-ms/ms 
UnknownMutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
Not available
S-EPMC7378245 | biostudies-literature
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