Varaico: Literature-Extracted Genetic Variants

Gene:CDX2
Variant:p.R228S
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CDX2

NM_001265.6:p.R228S

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

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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."