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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CRLS1

Variant:p.E88insFs

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CRLS1

NM_019095.6:p.E88insFs

hg38:chr20:6006508 G>GA

Associated Papers

RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.

Nakamura M et al.

Brain & Development, 2005

15668050 (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."