Varaico: Literature-Extracted Genetic Variants

Gene:CDX2
Variant:p.C132*
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CDX2

NM_001265.6:p.C132*

Associated Papers

Novel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary system.

Ramadesikan S et al.

Cold Spring Harbor Molecular Case Studies, 2023

The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.

Stevens SJC et al.

Clinical Genetics, 2022

Exome sequencing identifies the first genetic determinants of sirenomelia in humans.

Lecoquierre F et al.

Human Mutation, 2020

Molecular characterization of gastric-type endocervical adenocarcinoma using next-generation sequencing.

Garg S et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019

De novo mutations in Caudal Type Homeo Box transcription Factor 2 (CDX2) in patients with persistent cloaca.

Hsu JSJ et al.

Human Molecular Genetics, 2018

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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."