Varaico: Literature-Extracted Genetic Variants

Gene:B9D2
Variant:p.P74S
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B9D2

NM_030578.4:p.P74S

Associated Papers

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

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."