Varaico: Literature-Extracted Genetic Variants

Gene:VPS45
Variant:p.T224A
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VPS45

NM_007259.5:p.T224A

Associated Papers

Erratum to correct "How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45".

Unknown Author

Pediatric Blood & Cancer, 2019

How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45.

Shadur B et al.

Pediatric Blood & Cancer, 2019

A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis.

Shah RK et al.

Pediatric Blood & Cancer, 2017

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."