Varaico: Literature-Extracted Genetic Variants

Gene:CDHR1
Variant:p.D696_N697delFs
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CDHR1

NM_033100.4:p.D696_N697delFs

Associated Papers

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.

Beryozkin A et al.

Scientific Reports, 2015

Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.

Sharon D et al.

Molecular Vision, 2015

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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."