Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.K1434E
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ALMS1

NM_001378454.1:p.K1434E

Associated Papers

Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses.

Chang Y et al.

Genetics in Medicine : Official Journal of the American College of Medical 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."