Varaico: Literature-Extracted Genetic Variants

Gene:CDH2
Variant:p.L856fs
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CDH2

NM_001792.5:p.L856fs

Associated Papers

Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders.

Ferreira NGBP et al.

Endocrine Connections, 2023

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

Accogli A et al.

American Journal of Human Genetics, 2019

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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."