Varaico: Literature-Extracted Genetic Variants

Gene:RGS12
Variant:p.R101H
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RGS12

NM_001394154.1:p.R101H

Associated Papers

NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss.

Salazar-Silva R et al.

Human Molecular Genetics, 2021

33326993 (PubMed )
Supplement: supplementary_material_figure_legends_and_supplementary_tables_ddaa240.doc

A Global Map of G Protein Signaling Regulation by RGS Proteins.

Masuho I et al.

Cell, 2020

33007266 (PubMed )
Supplement: mmc5.xlsx › RGS12

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Gomes CC et al.

Nature Communications, 2018

30385747 (PubMed )
Supplement: 41467_2018_6690_MOESM6_ESM.xlsx › Supplementary_Data_3
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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."