Associated Papers
A Double Heterozygous Mutation of TNNI3 Causes Hypertrophic Cardiomyopathy in a Han Chinese Family.
Zheng H et al.
Cardiology, 2016
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
Melchionda L et al.
American Journal of Human Genetics, 2014
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.
Kohl S et al.
American Journal of Human Genetics, 2002
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