Varaico: Literature-Extracted Genetic Variants

Gene:PHB2
Variant:p.Y193insFs
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PHB2

NM_001144831.2:p.Y193insFs

Associated Papers

Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.

Lesch B et al.

Molecular Vision, 2008

[X-linked juvenile retinoschisis and XLRS 1 gene abnormality].

Nakazawa M

Nippon Ganka Gakkai Zasshi, 1999

Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium.

Unknown Author

Human Molecular Genetics, 1998

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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."