Varaico: Literature-Extracted Genetic Variants

Gene:PBLD
Variant:p.I264delFs
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PBLD

NM_022129.4:p.I264delFs

Associated Papers

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.

Khan K et al.

Human Molecular Genetics, 2012

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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."