Associated Papers
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
Spectrum, frequency, and genotype-phenotype of mutations in SPATA7.
Xiao X et al.
Molecular Vision, 2019
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.
Soens ZT et al.
Human Mutation, 2017
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
Wang H et al.
Investigative Ophthalmology & Visual Science, 2015
Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family.
Feldhaus B et al.
Ophthalmic Genetics, 0
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