Varaico: Literature-Extracted Genetic Variants

Gene:USB1
Variant:p.L173R
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USB1

NM_024598.4:p.L173R

Associated Papers

Insights Into Poikiloderma With Neutropenia: Genotypic and Phenotypic Analysis of 90 Cases With a New Case Report.

Becker M et al.

American Journal of Medical Genetics. Part A, 2026

Exploring the landscape of congenital and idiopathic neutropenia in Moroccan children: a comprehensive retrospective analysis.

Kasmi Z et al.

Immunologic Research, 2025

Genetic Diagnosis of Inborn Errors of Immunity in an Emerging Country: a Retrospective Study of 216 Moroccan Patients.

Moundir A et al.

Journal of Clinical Immunology, 2023

Poikiloderma with Neutropenia in Morocco: a Report of Four Cases.

Aglaguel A et al.

Journal of Clinical Immunology, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."