Varaico: Literature-Extracted Genetic Variants

Gene:VPS13B
Variant:p.I192insFs
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VPS13B

NM_152564.5:p.I192insFs

Associated Papers

Chédiak-Higashi syndrome with novel gene mutation.

Helmi MM et al.

Bmj Case Reports, 2017

Towards the targeted management of Chediak-Higashi syndrome.

Lozano ML et al.

Orphanet Journal of Rare Diseases, 2014

Molecular analysis and clinical aspects of four patients with Chédiak-Higashi syndrome (CHS).

Scherber E et al.

Clinical Genetics, 2009

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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."