Varaico: Literature-Extracted Genetic Variants

Gene:MTSS1
Variant:p.L12H
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MTSS1

NM_014751.6:p.L12H

Associated Papers

Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis.

Wang T et al.

Human Molecular Genetics, 2002

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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."