Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1
Variant:p.R2K
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DNASE1

NM_005223.4:p.R2K

Associated Papers

Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.

Klamt B et al.

Human Molecular Genetics, 1998

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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."