Associated Papers
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
34283047 (PubMed )
Supplement: cancers-13-03341-s001.zip › 2_Supplementary_table_S2A_2B.xlsx › Suppl_Table_2A
Novel insights into FAS defects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients.
Ben-Mustapha I et al.
Journal of Leukocyte Biology, 2018
The expanding spectrum of the autoimmune lymphoproliferative syndromes.
Oliveira JB
Current Opinion in Pediatrics, 2013
FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.
Kuehn HS et al.
Journal of Immunology (baltimore, Md. : 1950), 2011
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