Varaico: Literature-Extracted Genetic Variants

Gene:CDHR1
Variant:p.E146_D147Splc
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CDHR1

NM_033100.4:p.E146_D147Splc

Associated Papers

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › DBASS3_index

Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations.

Tiwari A et al.

Plos One, 2016

Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature.

Bessette AP et al.

Ophthalmic Genetics, 0

28885867 (PubMed )
Supplement: supplement_1.docx
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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."