Novel, heterozygous, pathogenic variant (c.4272delA: p.I1426Ffs*2) for the NF1 gene in a large Chinese family with neurofibromatosis type 1

Heller G(2016)Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands Sci Rep 6 190-1039

Ledbetter DH(2018)Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing J Cell Mol Med 22 1035-4392

Rich DC(2017)CEP78 is mutated in a distinct type of Usher syndrome J Med Genet 54 1260419-1683

O'Connell P(2012)Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration Nat Genet 44 4383-2695

Wallace MR(2015)Proteomics. Tissue-based map of the human proteome Science 347 1676-1164

Andersen LB(2020)Expressions and significances of the angiotensin-converting enzyme 2 gene, the receptor of SARS-CoV-2 for COVID-19 Mol Biol Rep 47 2689-1117

Saulino AM(2020)Identification of a novel germline BRCA2 variant in a Chinese breast cancer family J Cell Mol Med 24 1157-10

Upadhyaya M(2018)Evaluation genotypes of cancer cell lines HCC1954 and SiHa by short tandem repeat (STR) analysis and DNA sequencing Mol Biol Rep 45 1105-95

Osborn MJ(2017)Diagnosis for choroideremia in a large Chinese pedigree by nextgeneration sequencing (NGS) and noninvasive prenatal testing (NIPT) Mol Med Rep 15 7-1362

Maynard J(2017)Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria Genet Med 19 93-undefined

Heller G(2016)Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands Sci Rep 6 190-1039

Ledbetter DH(2018)Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing J Cell Mol Med 22 1035-4392

Rich DC(2017)CEP78 is mutated in a distinct type of Usher syndrome J Med Genet 54 1260419-1683

O'Connell P(2012)Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration Nat Genet 44 4383-2695

Wallace MR(2015)Proteomics. Tissue-based map of the human proteome Science 347 1676-1164

Andersen LB(2020)Expressions and significances of the angiotensin-converting enzyme 2 gene, the receptor of SARS-CoV-2 for COVID-19 Mol Biol Rep 47 2689-1117

Saulino AM(2020)Identification of a novel germline BRCA2 variant in a Chinese breast cancer family J Cell Mol Med 24 1157-10

Upadhyaya M(2018)Evaluation genotypes of cancer cell lines HCC1954 and SiHa by short tandem repeat (STR) analysis and DNA sequencing Mol Biol Rep 45 1105-95

Osborn MJ(2017)Diagnosis for choroideremia in a large Chinese pedigree by nextgeneration sequencing (NGS) and noninvasive prenatal testing (NIPT) Mol Med Rep 15 7-1362

Maynard J(2017)Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria Genet Med 19 93-undefined