Varaico: Literature-Extracted Genetic Variants

Gene:RRAGD
Variant:p.P119A
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RRAGD

NM_021244.5:p.P119A

Associated Papers

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

37188688 (PubMed )
Supplement: 41467_2023_38428_MOESM1_ESM.pdf
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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."