Varaico: Literature-Extracted Genetic Variants

Gene:INPP5E
Variant:p.D610H
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INPP5E

NM_019892.6:p.D610H

Associated Papers

[Clinical features and genetic analysis of two Chinese pedigrees affected with Joubert syndrome].

Zhao D et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023

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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."