Varaico: Literature-Extracted Genetic Variants

Gene:TSR3
Variant:p.D110Y
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TSR3

NM_001001410.3:p.D110Y

Associated Papers

Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.

Velho RV et al.

Journal of Human Genetics, 2016

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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."