Varaico: Literature-Extracted Genetic Variants

Gene:PHKA2
Variant:p.A72T
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PHKA2

NM_000292.3:p.A72T

Associated Papers

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

Nakazawa M

Nippon Ganka Gakkai Zasshi, 1999

Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.

Huopaniemi L et al.

European Journal of Human Genetics : Ejhg, 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."