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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CDHR1

Variant:p.E99_R100Splc

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CDHR1

NM_033100.4:p.E99_R100Splc

hg38:chr10:84196651 G>T

Associated Papers

A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy.

Ba-Abbad R et al.

Eye (london, England), 2021

32681094 (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."