Varaico: Literature-Extracted Genetic Variants

Gene:CDH3
Variant:p.M327fs
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CDH3

NM_001793.6:p.M327fs

Associated Papers

Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.

Kulyamzin S et al.

Genes, 2025

40725402 (PubMed )
Supplement: genes-16-00745-s001.zip › Supplementary_Table_S1.xlsx › Sheet1

The First Colombian Patient with CDH3-Related Hypotrichosis with Juvenile Macular Dystrophy.

Prieto LE et al.

Skin Appendage Disorders, 2025

Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.

Hull S et al.

Jama Ophthalmology, 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."