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Paper Details

Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder.
J Hum Genet
8
2021
5'-untranslated exons, 97-kb deletion, MBD5, SVs, causal genes, haploinsufficiency of MBD5, lymphoblastoid cells, neurodevelopmental disorder, patient, patients, promoters, retrotransposon, target genome regions
Author NameAffiliation
Martin C FrithArtificial Intelligence Research Center, National Institute of Advanced Industrial Science and Technology (AIST)
Martin C FrithUniversity of Tokyo
Martin C Frith
Martin C FrithArtificial Intelligence Research Center, National Institute of Advanced Industrial Science and Technology (AIST)
Martin C FrithUniversity of Tokyo
Martin C Frith
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