Varaico: Literature-Extracted Genetic Variants

Gene:B9D2
Variant:p.G155S
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B9D2

NM_030578.4:p.G155S

Associated Papers

Invertebrate Model Organisms as a Platform to Investigate Rare Human Neurological Diseases.

Lee JH

Experimental Neurobiology, 2022

Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans.

Lange KI et al.

Disease Models & Mechanisms, 2021

Meckel syndrome: Clinical and mutation profile in six fetuses.

Radhakrishnan P et al.

Clinical Genetics, 2019

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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."