Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.Q1052*
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ALMS1

NM_001378454.1:p.Q1052*

Associated Papers

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort.

Demir Ş et al.

Clinical Genetics, 2025

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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."