Associated Papers
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Li Y et al.
Frontiers in Oncology, 2022
36387164 (PubMed )
Supplement: Table_2.xlsx › genaration_II_somatic
Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families.
Ben-Ali M et al.
Journal of Clinical Immunology, 2020
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