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Article |
Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene
- Nikolay A. Barashkov
- , Fedor A. Konovalov
- & Sardana A. Fedorova
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Clinical Utility Gene Card |
Clinical utility gene card for FRMD7-related infantile nystagmus
- Basu Dawar
- , Helen J. Kuht
- & Mervyn G. Thomas
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Clinical Utility Gene Card |
Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)—an update
- Abdullah Aamir
- , Helen J. Kuht
- & Mervyn G. Thomas
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Article |
PRPF31 reduction causes mis-splicing of the phototransduction genes in human organotypic retinal culture
- Leila Azizzadeh Pormehr
- , Shahin Ahmadian
- & Mahshid Shafiezadeh