Varaico: Literature-Extracted Genetic Variants

Gene:PAPSS1
Variant:p.Q405*
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PAPSS1

NM_005443.5:p.Q405*

Associated Papers

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.

Ku CA et al.

Jama Ophthalmology, 2017

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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."