Varaico: Literature-Extracted Genetic Variants

Gene:ROGDI
Variant:p.A85_D86Splc
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ROGDI

NM_024589.3:p.A85_D86Splc

Associated Papers

Seizures, enamel defects and psychomotor developmental delay: The first patient with Kohlschütter-Tönz syndrome caused by a ROGDI-gene deletion.

Morscher RJ et al.

Seizure, 2017

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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."