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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UTP20

Variant:p.T1268I

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UTP20

NM_014503.3:p.T1268I

hg38:chr12:101338212 C>T

Associated Papers

PNC2 (SLC25A36) Deficiency Associated With the Hyperinsulinism/Hyperammonemia Syndrome.

Shahroor MA et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

34971397 (PubMed )

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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."