Varaico: Literature-Extracted Genetic Variants

Gene:RUVBL2
Variant:p.V4D
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RUVBL2

NM_006666.3:p.V4D

Associated Papers

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.

Hadjipanteli A et al.

Genes, 2024

38255008 (PubMed )
Supplement: genes-15-00119-s001.zip › All_rare_variants_for_fetus_1__manuscript_supplementary_material_.xlsx › Variant_details

High-throughput functional characterization of protein phosphorylation sites in yeast.

Viéitez C et al.

Nature Biotechnology, 2022

34663920 (PubMed )
Supplement: EMS132528-supplement-Supplementary_Data_6.xlsx › Functional_information
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