Varaico: Literature-Extracted Genetic Variants

Gene:GNPTAB
Variant:p.R375fs
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GNPTAB

NM_024312.5:p.R375fs

Associated Papers

Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.

Pasumarthi D et al.

Journal of Human Genetics, 2020

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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."