Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1B
Variant:p.*199Q
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CDKN1B

NM_004064.5:p.*199Q

Associated Papers

Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism.

Mazarico-Altisent I et al.

Journal of Endocrinological Investigation, 2023

36334246 (PubMed )
Supplement: 40618_2022_1948_MOESM1_ESM.xlsx › Supplementary_material

Multiple endocrine neoplasia type 4: a new member of the MEN family.

Singeisen H et al.

Endocrine Connections, 2023

JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.

Bodaar K et al.

Leukemia, 2022

35411095 (PubMed )
Supplement: NIHMS1792675-supplement-Supplementary_Table_2.xlsx › Sheet_1

Case Report: New CDKN1B Mutation in Multiple Endocrine Neoplasia Type 4 and Brief Literature Review on Clinical Management.

Lavezzi E et al.

Frontiers in Endocrinology, 2022

Clinical Features of Multiple Endocrine Neoplasia Type 4: Novel Pathogenic Variant and Review of Published Cases.

Frederiksen A et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia.

Pouliot GP et al.

Plos One, 2019

31721781 (PubMed )
Supplement: pone.0221288.s010.xlsx › SNV

Hedgehog pathway mutations drive oncogenic transformation in high-risk T-cell acute lymphoblastic leukemia.

Burns MA et al.

Leukemia, 2018

29654263 (PubMed )
Supplement: NIHMS944706-supplement-Table_S2.xlsx › Table_S2

Landscape of CDKN1B Mutations in Luminal Breast Cancer and Other Hormone-Driven Human Tumors.

Cusan M et al.

Frontiers in Endocrinology, 2018

MEN4 and CDKN1B mutations: the latest of the MEN syndromes.

Alrezk R et al.

Endocrine-related Cancer, 2017

p27Kip1 and human cancers: A reappraisal of a still enigmatic protein.

Bencivenga D et al.

Cancer Letters, 2017

A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization.

Molatore S et al.

Human Mutation, 2010

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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."