Varaico: Literature-Extracted Genetic Variants

Gene:CHRDL1
Variant:p.P56fs
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CHRDL1

NM_001143981.2:p.P56fs

Associated Papers

Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model.

Pfirrmann T et al.

Human Molecular Genetics, 2015

Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.

Davidson AE et al.

Plos One, 2014

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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."