Associated Papers
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
Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.
Abualsaud D et al.
American Journal of Medical Genetics. Part A, 2021
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34.
Shaheen R et al.
Human Mutation, 2019
Select a paper to view details