Varaico: Literature-Extracted Genetic Variants

Gene:RAB7A
Variant:p.C205S
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RAB7A

NM_004637.6:p.C205S

Associated Papers

Membrane Targeting and GTPase Activity of Rab7 Are Required for Its Ubiquitination by RNF167.

Ghilarducci K et al.

International Journal of Molecular Sciences, 2022

Cln1-mutations suppress Rab7-RILP interaction and impair autophagy contributing to neuropathology in a mouse model of infantile neuronal ceroid lipofuscinosis.

Sarkar C et al.

Journal of Inherited Metabolic Disease, 2020

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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."