Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.G214R
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WAS

NM_000377.3:p.G214R

Associated Papers

Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses.

Parisi X et al.

Journal of Clinical Pathology, 2024

Elastase inhibitors as potential therapies for ELANE-associated neutropenia.

Makaryan V et al.

Journal of Leukocyte Biology, 2017

Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.

Thusberg J et al.

Human Mutation, 2006

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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."