Varaico: Literature-Extracted Genetic Variants

Gene:CDK12
Variant:p.Q842R
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CDK12

NM_016507.4:p.Q842R

Associated Papers

Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects.

Cui X et al.

Molecular Genetics & Genomic Medicine, 2022

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

Bostwick BL et al.

Genome Medicine, 2017

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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."