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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHRDL1

Variant:p.S269_H270delFs

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CHRDL1

NM_001143981.2:p.S269_H270delFs

hg38:chrX:110688773 TGA>T

Associated Papers

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

Pfirrmann T et al.

Human Molecular Genetics, 2015

25712132 (PubMed )

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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."