Associated Papers
Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.
Rubino E et al.
Alzheimer's Research & Therapy, 2025
39810256 (PubMed )
Supplement: 13195_2024_1661_MOESM2_ESM.xlsx › Suppl._Table_2
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
Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome.
Micheal S et al.
Cornea, 2019
Novel Zinc Finger Protein Gene 469 (ZNF469) Variants in Advanced Keratoconus.
Yildiz E et al.
Current Eye Research, 2017
Evidence against ZNF469 being causative for keratoconus in Polish patients.
Karolak JA et al.
Acta Ophthalmologica, 2016
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