Varaico: Literature-Extracted Genetic Variants

Gene:CDHR1
Variant:p.E680_T681Splc
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CDHR1

NM_033100.4:p.E680_T681Splc

Associated Papers

Corrigendum to "Splicing mutations in inherited retinal diseases" [Prog. Retin. Eye Res. 80 (2021) 100874].

Weisschuh N et al.

Progress in Retinal and Eye Research, 2022

Identification of Novel Mutations in Chinese Infants With Citrullinemia.

Cheng Z et al.

Frontiers in Genetics, 2022

CDHR1 mutations in retinal dystrophies.

Stingl K et al.

Scientific Reports, 2017

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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."