Associated Papers
Cav1.4 congenital stationary night blindness is associated with an increased rate of proteasomal degradation.
Sadeh TT et al.
Frontiers in Cell and Developmental Biology, 2023
Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar.
Sallah SR et al.
European Journal of Human Genetics : Ejhg, 2020
32313206 (PubMed )
Supplement: 41431_2020_623_MOESM1_ESM.xlsx › combined_train_test_data
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31848469 (PubMed )
Supplement: 41436_2019_722_MOESM1_ESM.pdf
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