Varaico: Literature-Extracted Genetic Variants

Gene:RRAGD
Variant:p.P88R
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RRAGD

NM_021244.5:p.P88R

Associated Papers

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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