Varaico: Literature-Extracted Genetic Variants

Gene:RNPC3
Variant:p.K466Q
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RNPC3

NM_017619.4:p.K466Q

Associated Papers

Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA.

Norppa AJ et al.

Rna (new York, N.y.), 2018

Functional stabilization of an RNA recognition motif by a noncanonical N-terminal expansion.

Netter C et al.

Rna (new York, N.y.), 2009

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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."