Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.G203D
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ELANE

NM_001972.4:p.G203D

Associated Papers

Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia.

Meng X et al.

Blood Advances, 2024

Heterogeneous genetic landscape of congenital neutropenia in Korean patients revealed by whole exome sequencing: genetic, phenotypic and histologic correlations.

Jeong D et al.

Scientific Reports, 2022

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

Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.

Ishikawa N et al.

Journal of Medical Genetics, 2008

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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."