Varaico: Literature-Extracted Genetic Variants

Gene:PUF60
Variant:p.R448fs
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PUF60

NM_078480.3:p.R448fs

Associated Papers

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.

Moccia A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

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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."