The c.64?+?2?T?>?A Founder Variant Hits Home: Report on 14 Patients Expands the Phenotypic Landscape of Inherited ARPC1B Deficiency - a Comparative Analysis.

Bhattarai D, Banday AZ, Patra PK, Baral R, Chaudhry C, Girisha KM, Walter JE, Narasimhan G, Neven B, Stray-Pedersen A, Sullivan KE. The c.64?+?2?T?>?A Founder Variant Hits Home: Report on 14 Patients Expands the Phenotypic Landscape of Inherited ARPC1B Deficiency - a Comparative Analysis. Clin Rev Allergy Immunol. 2025 Jul 16; 68(1):64.

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subject areas

Adolescent
Adult
Child
Child, Preschool
Female
Founder Effect
Haplotypes
Homozygote
Humans
Male
Mutation
Nepal
Pedigree
Phenotype
Young Adult

authors with profiles

Kathleen Sullivan, APRN, PMHCNS-BC

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