Varaico: Literature-Extracted Genetic Variants

Gene:PRTN3
Variant:p.L116insFs
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PRTN3

NM_002777.4:p.L116insFs

Associated Papers

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.

Tonkin ET et al.

Nature Genetics, 2004

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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."