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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RET

Variant:p.Q421_I422Splc

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RET

NM_020975.6:p.Q421_I422Splc

hg38:chr10:43111206 G>A

Associated Papers

A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome.

Kleppa L et al.

Neuroscience, 2007

17084038 (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."