Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.E78_D79Splc
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PPT1

NM_000310.4:p.E78_D79Splc

Associated Papers

Considerations in multi-gene panel testing in pediatric ophthalmology.

Turriff AE et al.

Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2019

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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."