Associated Papers
Preliminary investigation into the genetic etiology of short stature in children through whole exon sequencing of the core family.
He J et al.
Open Life Sciences, 2024
Consanguineous-derived homozygous WNT1 mutation results in osteogenesis imperfect with congenital ptosis and exotropia.
Chen P et al.
Molecular Genetics & Genomic Medicine, 2020
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
Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.
Tan ZP et al.
Scientific Reports, 2014
25010007 (PubMed )
Supplement: srep05616-s2.xls › dominant_result_new
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