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Paper Details

<i>De novo</i> mutations in the X-linked <i>TFE3</i> gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.
J Med Genet
9
2020
Author NameAffiliation
Jill Clayton-Smith
Jill Clayton-SmithUniversity of Manchester
Irene ValenzuelaUniversity Hospital Vall d'Hebron
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Release 1.2