Varaico: Literature-Extracted Genetic Variants

Gene:CDON
Variant:p.N1092_G1093Splc
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CDON

NM_001378964.1:p.N1092_G1093Splc

Associated Papers

Genetics of GH Deficiency: Insights From a Cohort of 203 Patients.

Ribeiro AC et al.

The Journal of Clinical Endocrinology and Metabolism, 2026

Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.

Pinc Z et al.

Journal of Clinical Immunology, 2025

41188636 (PubMed )
Supplement: 10875_2025_1951_MOESM1_ESM.xlsx › Table_S5_final

Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.

Horbacz M et al.

Frontiers in Medicine, 2025

41210864 (PubMed )
Supplement: Table_5.XLSX › Supplementary_Table_5

CDON Mutation Related to Nose Deformity with Variable Expression in Holoprosencephaly in an Iranian Family: A Case Report.

Farhud DD et al.

Iranian Journal of Public Health, 2024

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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."