Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.H53R
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ELANE

NM_001972.4:p.H53R

Associated Papers

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

Meng X et al.

Blood Advances, 2024

Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Dai D et al.

Archives of Disease in Childhood, 2022

34134972 (PubMed )
Supplement: archdischild-2021-322058supp001.pdf

Inflammatory Pseudotumor of Liver and Budd-Chiari Syndrome: a Tale During 10 Years of Follow-up in a Child with Severe Congenital Neutropenia.

Sugumar K et al.

Journal of Clinical Immunology, 2021

Screening for primary immunodeficiency diseases by next-generation sequencing in early life.

Sun J et al.

Clinical & Translational Immunology, 2020

32431812 (PubMed )
Supplement: CTI2-9-e1138-s001.xlsx › Sheet1
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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."