Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
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
Genetic architecture of retinoic-acid signaling-associated ocular developmental defects.
Nedelec B et al.
Human Genetics, 2019
A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.
Marcadier JL et al.
American Journal of Medical Genetics. Part A, 2016
A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.
Ng WY et al.
Clinical Genetics, 2013
Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.
Chassaing N et al.
Human Mutation, 2009
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