Varaico: Literature-Extracted Genetic Variants

Gene:VPS13B
Variant:p.G430A
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VPS13B

NM_152564.5:p.G430A

Associated Papers

Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults.

Grossi A et al.

International Journal of Molecular Sciences, 2025

40725177 (PubMed )
Supplement: ijms-26-06929-s001.zip › ijms-3724192-supplementary.xlsx › Supplementary_table1

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Diñeiro M et al.

Acta Ophthalmologica, 2020

32483926 (PubMed )
Supplement: AOS-98-e1034-s012.xlsx › Table_S12
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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."