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Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic- reticulumto-Golgi trafficking.
Sabine Leh
Demo Website
SNPs
A case of glomerular basement membrane lamellation associated with mutation in the MYO1E gene and not with Alport syndrome Sabine Leh Damien Brackman,
Schizophrenia
Using protein interaction networks to identify candidate disease genes in psychiatric illness.
Regulatory variation and its functional consequences