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Paper Details

An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
Hum Mol Genet
12
2020
4, Alu, LCA, Leber congenital amaurosis, NAD, NMNAT1, NMNAT1 main isoform, Nmnat1, RNA, SHILCA, aberrant mRNAs, autosomal recessive disorder, brain anomalies, children, chromosome 1, embryonic lethality, exons, fibroblasts, gene NMNAT1, intellectual disability, lethality, murine, murine Nmnat1, non-syndromic Leber congenital amaurosis, patient, patients, rare coding variants, sensorineural hearing loss, shared autozygous interval, spondylo-epiphyseal dysplasia, syndromic
Author NameAffiliation
Mathieu QuinodozUniversity of Lausanne
Mathieu QuinodozUniversity of LE1 7RH Leicester
Mathieu QuinodozInstitute of Molecular and Clinical Ophthalmology Basel
Mathieu QuinodozUniversity of Basel
Carlo RivoltaUniversity of LE1 7RH Leicester
Carlo RivoltaInstitute of Molecular and Clinical Ophthalmology Basel
Carlo RivoltaUniversity of Basel
Carlo RivoltaUniversity of LE1 7RH Leicester
Carlo RivoltaInstitute of Molecular and Clinical Ophthalmology Basel
Carlo RivoltaUniversity of Basel
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