Associated Papers
Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss.
Lewis MA et al.
Plos Genetics, 2023
Identification of EPX Variants in Human Eosinophilic Granulomatosis With Polyangiitis (Churg-Strauss).
David C et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2023
Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity of TP53.
Butz H et al.
Frontiers in Oncology, 2022
35419288 (PubMed )
Supplement: Table_1.xlsx › exome_variants_MAF_0.01
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