Varaico: Literature-Extracted Genetic Variants

Gene:CDHR1
Variant:p.A212T
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CDHR1

NM_033100.4:p.A212T

Associated Papers

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.

Weisschuh N et al.

Plos One, 2018

A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.

Cohen B et al.

Molecular Vision, 2012

Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies.

Bolz H et al.

Molecular Vision, 2005

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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."