Varaico: Literature-Extracted Genetic Variants

Gene:VPS33B
Variant:p.K480delFs
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VPS33B

NM_018668.5:p.K480delFs

Associated Papers

Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome.

Alter S et al.

American Journal of Medical Genetics. Part A, 2018

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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."