Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.N2637insFs
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ALMS1

NM_001378454.1:p.N2637insFs

Associated Papers

Obesity-Related Ciliopathies: Focus on Advances of Biomarkers.

Zhang Q et al.

International Journal of Molecular Sciences, 2024

Alström syndrome-wide clinical variability within the same variant: a case report and literature review.

Jecan-Toader D et al.

Frontiers in Pediatrics, 2024

Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy.

Dedeoglu S et al.

Orphanet Journal of Rare Diseases, 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."