Varaico: Literature-Extracted Genetic Variants

Gene:RAB33B
Variant:p.Q134*
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RAB33B

NM_031296.3:p.Q134*

Associated Papers

Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India.

Varshney K et al.

Journal of Medical Genetics, 2023

Seven patients with Smith-McCort dysplasia 2: Four novel nonsense variants in RAB33B and follow-up findings.

Tüysüz B et al.

European Journal of Medical Genetics, 2021

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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."