Varaico: Literature-Extracted Genetic Variants

Gene:VPS45
Variant:p.L410P
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VPS45

NM_007259.5:p.L410P

Associated Papers

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Arts P et al.

Genome Medicine, 2019

Periodontal Disease in Two Siblings with VPS45-associated Severe Congenital Neutropenia Type V: A Case Report.

Alotaibi FA et al.

International Journal of Clinical Pediatric Dentistry, 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."