Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.Q1384insFs
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ALMS1

NM_015120.4:p.Q1384insFs

Associated Papers

Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project).

Gippert S et al.

Endocrine, 2024

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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."