Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants
Published 2019 View Full Article
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Title
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants
Authors
Keywords
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Journal
Journal of Clinical Medicine
Volume 8, Issue 11, Pages 2020
Publisher
MDPI AG
Online
2019-11-20
DOI
10.3390/jcm8112020
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- The cBio Cancer Genomics Portal: An Open Platform for Exploring Multidimensional Cancer Genomics Data: Figure 1.
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