Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.R316Q
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CDKN1C

NM_000076.2:p.R316Q

Associated Papers

CDKN1C gene mutation causing familial Silver-Russell syndrome: A case report and review of literature.

Li J et al.

World Journal of Clinical Cases, 2023

Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome.

Binder G et al.

Clinical Epigenetics, 2020

Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.

Inoue T et al.

Clinical Epigenetics, 2020

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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."