Associated Papers
Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients.
Wang Q et al.
Bmc Medical Genomics, 2023
Understanding mutational effects in digenic diseases.
Gazzo A et al.
Nucleic Acids Research, 2017
28911095 (PubMed )
Supplement: gkx557_supp.zip › nar-00132-met-n-2017-File009.pdf
Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A.
Gupta S et al.
Cold Spring Harbor Molecular Case Studies, 2016
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