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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RB1CC1

Variant:p.P70S

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RB1CC1

NM_014781.5:p.P70S

hg38:chr8:52683710 G>A

Associated Papers

Inactive ryanodine receptors sustain lysosomal availability for autophagy by promoting ER-lysosomal contact site formation.

Vervliet T et al.

Nature Communications, 2026

41540008 (PubMed )

Supplement: 41467_2025_68054_MOESM3_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."