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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SNU13

Variant:p.K21*

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SNU13

NM_001003796.2:p.K21*

hg38:chr22:41680307 T>A

Associated Papers

Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.

Iwama K et al.

Clinical Genetics, 2017

28177126 (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."