Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.L28_A29insFs
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ACE

NM_000789.4:p.L28_A29insFs

Associated Papers

Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening.

Beauregard-Lacroix É et al.

Molecular Genetics and Metabolism Reports, 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."