Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.E274K
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CDKN1C

NM_001122630.2:p.E274K

Associated Papers

Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.

Al-Hamed MH et al.

Molecular Genetics & Genomic Medicine, 2025

A Case report: Co-occurrence of IMAGe syndrome and Rhabdomyosarcoma.

Bolomiti M et al.

Cancer Genetics, 2021

IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.

Kato F et al.

Clinical Endocrinology, 2014

Parent-of-origin specific linkage and association of the IGF2 gene region with birth weight and adult metabolic risk factors.

Souren NY et al.

International Journal of Obesity (2005), 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."