پروژه امید
پروژه امید
NGS
MFSD6L chr17
MFSD6L chr17 No disorders were found […]
NGS
GPR125 (ADGRA3) chr4
GPR125 (ADGRA3) chr4 Bipolar disorder — Schizophrenia […]
NGS
C10orf2 (TWNK) chr10
C10orf2 (TWNK) chr10 Ataxia neuropathy spectrum — Infantile-onset spinocerebellar ataxia (IOSCA) — Perrault syndrome — Progressive external ophthalmoplegia — mtDNA depletion syndrome, hepatocerebral form […]
NGS
NGS
C2orf71 (PCARE) chr2
C2orf71 (PCARE) chr2 Retinitis pigmentosa 54 […]
NGS
NGS
DFNB31 (WHRN) chr9
DFNB31 (WHRN) chr9 Nonsyndromic hearing loss — Usher syndrome, type 2D […]
NGS
NGS
LEPREL1 (P3H2) chr3
LEPREL1 (P3H2) chr3 Myopia, high, with cataract and vitreoretinal degeneration […]