Varaico: Literature-Extracted Genetic Variants

Gene:GNPTAB
Variant:p.S422C
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GNPTAB

NM_024312.5:p.S422C

Associated Papers

Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.

Raza MH et al.

European Journal of Human Genetics : Ejhg, 2016

A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering.

Han TU et al.

Neurobiology of Disease, 2014

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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."