Varaico: Literature-Extracted Genetic Variants

Gene:GNPTAB
Variant:p.K4T
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GNPTAB

NM_024312.5:p.K4T

Associated Papers

Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations.

Erdem F et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 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."