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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NUS1

Variant:p.Y284_A285delFs

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NUS1

NM_138459.5:p.Y284_A285delFs

hg38:chr6:117706983 TATGC>T

Associated Papers

Biochemical and molecular characteristics of citrin deficiency in Korean children.

Oh SH et al.

Journal of Human Genetics, 2017

27829683 (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."