Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.L53_Y54del0
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WAS

NM_000377.3:p.L53_Y54del0

Associated Papers

Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.

Lauhasurayotin S et al.

Npj Genomic Medicine, 2019

Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR.

Proust A et al.

Blood Cells, Molecules & Diseases, 0

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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."