Associated Papers
Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.
Taha I et al.
Genes, 2022
35893049 (PubMed )
Supplement: genes-13-01314-s001.zip › genes-1798999-supplementary.xlsx › Table_S4
Sequence-Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2.
Schnappauf O et al.
Arthritis & Rheumatology (hoboken, N.j.), 2021
Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach.
Burillo-Sanz S et al.
Scientific Reports, 2017
Select a paper to view details