Varaico: Literature-Extracted Genetic Variants

Gene:RAB23
Variant:p.L139P
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RAB23

NM_016277.5:p.L139P

Associated Papers

Polydactyly: Clinical and molecular manifestations.

Kyriazis Z et al.

World Journal of Orthopedics, 2023

Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.

Khairat R 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."