Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.R177_V178Splc
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NAGLU

NM_000263.4:p.R177_V178Splc

Associated Papers

Disease modeling for Mucopolysaccharidosis type IIIB using patient derived induced pluripotent stem cells.

Huang W et al.

Experimental Cell Research, 2021

Role of induced pluripotent stem cells in lysosomal storage diseases.

Kido J et al.

Molecular and Cellular Neurosciences, 2020

Modeling neuronal defects associated with a lysosomal disorder using patient-derived induced pluripotent stem cells.

Lemonnier T et al.

Human Molecular Genetics, 2011

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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."