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.
PubMed Identifier: 40668456
author list: Bhattarai D, Banday AZ, Patra PK, Baral R, Chaudhry C, Girisha KM, Walter JE, Narasimhan G, Neven B, Stray-Pedersen A, Sullivan KE
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published in: Clinical reviews in allergy & immunology
has major subject area list: Founder Effect
has minor subject area list: Adolescent; Adult; Child; Child, Preschool; Female; Haplotypes; Homozygote; Humans; Male; Mutation; Nepal; Pedigree; Phenotype; Young Adult
information resource reference: 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.
journal title abbreviation: Clin Rev Allergy Immunol
publication date: 2025-07-16T00:00:00
year: 2025
type: Academic Article
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linked information resource: 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.

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