Varaico: Literature-Extracted Genetic Variants

Gene:CRB2
Variant:p.C775*
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CRB2

NM_173689.7:p.C775*

Associated Papers

Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.

Tessier A et al.

Acta Neuropathologica Communications, 2023

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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."