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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CDH3

Variant:p.G599Splc

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CDH3

NM_001793.6:p.G599Splc

hg38:chr16:68687737 G>C

Associated Papers

Novel CDH3 variants in Brazilian families with hypotrichosis and juvenile macular dystrophy revealed by exome sequencing.

Schauren JS et al.

Clinical Genetics, 2020

31696509 (PubMed )

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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."