Varaico: Literature-Extracted Genetic Variants

Gene:RRAGD
Variant:p.P88L
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RRAGD

NM_021244.5:p.P88L

Associated Papers

Novel RRAGD Variants in Autosomal Dominant Kidney Hypomagnesemia and Therapeutic Perspectives.

Adella A et al.

Kidney International Reports, 2025

Ragopathies and the rising influence of RagGTPases on human diseases.

Sambri I et al.

Nature Communications, 2024

Dilated Cardiomyopathy With Concomitant Salt-Losing Renal Tubulopathy Caused by Heterozygous RRAGD Gene Variant.

de Frutos F et al.

Circulation. Genomic and Precision Medicine, 2024

RRAGD-Associated Autosomal Dominant Kidney Hypomagnesemia with Cardiomyopathy: A Review on the Clinical Manifestations and Therapeutic Options.

Trepiccione F et al.

Kidney & Blood Pressure Research, 2024

RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome.

Sambri I et al.

Nature Communications, 2023

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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."