Varaico: Literature-Extracted Genetic Variants

Gene:RUVBL1
Variant:p.R276*
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RUVBL1

NM_003707.3:p.R276*

Associated Papers

In silico protein structural analysis of PRMT5 and RUVBL1 mutations arising in human cancers.

Al-Marrawi M et al.

Cancer Genetics, 2025

Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays.

Jurgens JA et al.

Investigative Ophthalmology & Visual Science, 2025

40162949 (PubMed )
Supplement: iovs-66-3-62_s002.xlsx › Supp_Table1

Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays.

Jurgens JA et al.

Biorxiv : the Preprint Server for Biology, 2024

39314366 (PubMed )
Supplement: media-2.xlsx › Supp_Table1
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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."