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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHRDL1

Variant:p.P56fs

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CHRDL1

NM_001143981.2:p.P56fs

hg38:chrX:110762734 A>AN

Associated Papers

X-linked Megalocornea Associated with the Novel CHRDL1 Gene Mutation p.(Pro56Leu*8).

Han J et al.

Ophthalmic Genetics, 2015

24073597 (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."