Associated Papers
Next-generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17.
Savage SA et al.
Human Mutation, 2022
Retraction statement: First report of novel heterozygous WRAP53 p.Ala522Glyfs*8 mutation associated dyskeratosis congenita.
Unknown Author
British Journal of Haematology, 2022
First report of novel heterozygous WRAP53 p.Ala522Glyfs*8 mutation associated dyskeratosis congenita.
Magnusson T et al.
British Journal of Haematology, 2022
A performance evaluation study: Variant annotation tools - the enigma of clinical next generation sequencing (NGS) based genetic testing.
Tuteja S et al.
Journal of Pathology Informatics, 2022
Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.
Moradian MM et al.
Human Genome Variation, 2021
Diaphyseal and Metaphyseal Modeling Defects-Clinical Findings and Identification of WRAP53 Deficiency in Craniometadiaphyseal Dysplasia.
Hao Y et al.
Frontiers in Genetics, 2021
A Protocol for Preconceptional Screening of Consanguineous Couples Using Whole Exome Sequencing.
Dos Santos CMA et al.
Frontiers in Genetics, 2021
Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.
Kim B et al.
Plos One, 2019
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