Varaico: Literature-Extracted Genetic Variants

Gene:CLPB
Variant:p.E635delins
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CLPB

NM_001258392.3:p.E635delins

Associated Papers

Biallelic CLPB mutation associated with isolated neutropenia and 3-MGA-uria.

Rivalta B et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2022

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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."