Varaico: Literature-Extracted Genetic Variants

Gene:LYSET
Variant:p.E72insFs
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LYSET

NM_001098621.4:p.E72insFs

Associated Papers

Biallelic Variant in LYSET Associated With Mucolipidosis II-Like Phenotype.

Kariminejad A et al.

American Journal of Medical Genetics. Part A, 2025

Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature.

Ain NU et al.

Human Mutation, 2021

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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."