Varaico: Literature-Extracted Genetic Variants

Gene:MAN2A2
Variant:p.Y467C
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MAN2A2

NM_006122.4:p.Y467C

Associated Papers

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.

Gruber R et al.

The Journal of Investigative Dermatology, 2017

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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."