Associated Papers
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.
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Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
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Npj Genomic Medicine, 2020
33083013 (PubMed )
Supplement: 41525_2020_150_MOESM1_ESM.pdf
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
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Brain : a Journal of Neurology, 2019
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