Associated Papers
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
Patterns and mutational signatures of tandem base substitutions causing human inherited disease.
Chen JM et al.
Human Mutation, 2013
The dimerization domain in outer segment guanylate cyclase is a Ca²⁺-sensitive control switch module.
Zägel P et al.
Biochemistry, 2013
A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy.
Zhao X et al.
Molecular Vision, 2013
A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family.
Xiao X et al.
Molecular Vision, 2011
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