Associated Papers
Variable Syndromic Immunodeficiency in Patients with Biallelic PRIM1 Mutations.
Toskov V et al.
Journal of Clinical Immunology, 2024
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1
Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.
Schmit M et al.
International Journal of Molecular Sciences, 2021
PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.
Parry DA et al.
Genes & Development, 2020
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