Varaico: Literature-Extracted Genetic Variants

Gene:CHRDL1
Variant:p.E69_N70Splc
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CHRDL1

NM_001143981.2:p.E69_N70Splc

Associated Papers

Novel CHRDL1 mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females.

Arce-Gonzalez R et al.

Ophthalmic Genetics, 2022

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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."