Varaico: Literature-Extracted Genetic Variants

Gene:RORC
Variant:p.C229Y
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RORC

NM_005060.4:p.C229Y

Associated Papers

Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants in BUD13, a Component of the Retention and Splicing (RES) Complex.

Andres EM et al.

Brain Sciences, 2021

35053791 (PubMed )
Supplement: brainsci-12-00047-s001.zip › brainsci-1490268_Tables_S1-7_Dec29-2021.xlsx › Table_S1._137variants

Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance.

Nadella RK et al.

Human Genomics, 2019

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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."