Associated Papers
Bi-allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family.
Kotecha U et al.
Clinical Genetics, 2021
Increasing the sensitivity of clinical exome sequencing through improved filtration strategy.
Shamseldin HE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder.
Shamseldin HE et al.
Human Genetics, 2016
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