Varaico: Literature-Extracted Genetic Variants

Gene:KRIT1
Variant:p.Q458_Q459insFs
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KRIT1

NM_194454.3:p.Q458_Q459insFs

Associated Papers

Neuro-oculo-cutaneous cavernous hemangiomas: a CCM1 mutation-associated phakomatosis.

Labowsky MT et al.

Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 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."