Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1B
Variant:p.S27P
Back to variants list

CDKN1B

NM_004064.5:p.S27P

Associated Papers

Neuroblastoma Predisposition and Surveillance-An Update from the 2023 AACR Childhood Cancer Predisposition Workshop.

Kamihara J et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

PDP type brain tumor in association with multiple endocrine neoplasia type 1.

Einarsson HB et al.

Heliyon, 2024

Simultaneous Pheochromocytoma, Paraganglioma, and Papillary Thyroid Carcinoma without Known Mutation.

Rasquin L et al.

Case Reports in Endocrinology, 2018

Coexistence of paraganglioma/pheochromocytoma and papillary thyroid carcinoma: a four-case series analysis.

Bugalho MJ et al.

Familial Cancer, 2015

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I et al.

Human Genomics, 2015

26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyB

Deficiency of the cyclin-dependent kinase inhibitor, CDKN1B, results in overgrowth and neurodevelopmental delay.

Grey W et al.

Human Mutation, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."