Varaico: Literature-Extracted Genetic Variants

Gene:CDON
Variant:p.M919I
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CDON

NM_001378964.1:p.M919I

Associated Papers

CDON gene contributes to pituitary stalk interruption syndrome associated with unilateral facial and abducens nerve palsy.

Obara-Moszyńska M et al.

Journal of Applied Genetics, 2021

Compound heterozygous splicing CDON variants result in isolated ocular coloboma.

Reis LM et al.

Clinical Genetics, 2020

Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.

Jones GE et al.

American Journal of Medical Genetics. Part A, 2016

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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."