Varaico: Literature-Extracted Genetic Variants

Gene:GOSR1
Variant:p.D51_P54del4
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GOSR1

NM_001007025.2:p.D51_P54del4

Associated Papers

Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells.

Marchese E et al.

Iscience, 2022

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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."