Varaico: Literature-Extracted Genetic Variants

Gene:MDM1
Variant:p.M1T
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MDM1

NM_001354969.2:p.M1T

Associated Papers

Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy.

Moye AR et al.

American Journal of Human Genetics, 2026

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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."