Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.R279P
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CDKN1C

NM_000076.2:p.R279P

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

Analysis of CDKN1C in fetal growth restriction and pregnancy loss.

Suntharalingham JP et al.

F1000research, 2019

Familial Russell-Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case.

Sabir AH et al.

Case Reports in Genetics, 2019

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.

Brioude F et al.

Human Mutation, 2015

A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.

Kerns SL et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome.

Brioude F et al.

Journal of Medical Genetics, 2013

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.

Arboleda VA et al.

Nature Genetics, 2012

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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."