Varaico: Literature-Extracted Genetic Variants

Gene:ADIPOQ
Variant:p.H163Q
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ADIPOQ

NM_004797.4:p.H163Q

Associated Papers

Longitudinal Changes of Retinal Structure in Molecularly Confirmed C1QTNF5 Patients With Late-Onset Retinal Degeneration.

Cheloni R et al.

Translational Vision Science & Technology, 2023

Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration.

Stanton CM et al.

Scientific Reports, 2017

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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."