Varaico: Literature-Extracted Genetic Variants

Gene:AP1B1
Variant:p.Y421*
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AP1B1

NM_001127.4:p.Y421*

Associated Papers

Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1.

Faghihi F et al.

European Journal of Medical Genetics, 2022

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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."