Associated Papers
A Brazilian case arising from a homozygous canonical splice site SLC35A3 variant leading to an in-frame deletion.
Miyake N et al.
Clinical Genetics, 2021
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
31832098 (PubMed )
Supplement: 13039_2019_459_MOESM4_ESM.xlsx › Sheet1
A human case of SLC35A3-related skeletal dysplasia.
Edmondson AC et al.
American Journal of Medical Genetics. Part A, 2017
Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.
Edvardson S et al.
Journal of Medical Genetics, 2013
Select a paper to view details