Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.C152delFs
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PPT1

NM_000310.4:p.C152delFs

Associated Papers

Uniparental disomy in a population of 32,067 clinical exome trios.

Scuffins J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33495530 (PubMed )
Supplement: 41436_2020_1092_MOESM1_ESM.pdf
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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."