Associated Papers
Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract.
Saleem RS et al.
Molecular Genetics & Genomic Medicine, 2022
A year of COVID-19 GWAS results from the GRASP portal reveals potential genetic risk factors.
Thibord F et al.
Hgg Advances, 2022
35224516 (PubMed )
Supplement: mmc2.xlsx › TS6
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete
Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing.
Li S et al.
Bmc Medical Genetics, 2019
31842807 (PubMed )
Supplement: 12881_2019_933_MOESM2_ESM.xlsx › ___1
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