Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.M1V
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CYBA

NM_000101.4:p.M1V

Associated Papers

Genetics and Glaucoma: the state of the art.

Tirendi S et al.

Frontiers in Medicine, 2023

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Chan KW et al.

Frontiers in Immunology, 2022

35874699 (PubMed )
Supplement: Table_2.xlsx › Suppl_table_2

Clinical and genetic characteristics of Chinese pediatric patients with chronic granulomatous disease.

Gao LW et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2019

Human genetic factors in tuberculosis: an update.

van Tong H et al.

Tropical Medicine & International Health : Tm & Ih, 2017

Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry.

de Oliveira-Junior EB et al.

Pediatric Blood & Cancer, 2015

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

Roos D et al.

Blood Cells, Molecules & Diseases, 2010

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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."