Varaico: Literature-Extracted Genetic Variants

Gene:CTNNBL1
Variant:p.E72K
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CTNNBL1

NM_030877.5:p.E72K

Associated Papers

X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.

Fortunato P et al.

Ophthalmic Genetics, 2023

Sequence recombination in exon 1 of the TSPY gene in men with impaired fertility.

Svacinova V et al.

Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2011

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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."