Publications:

Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.

Orphanet Journal Of Rare Diseases

Bouzidi, Aymane A; Charoute, Hicham H; Charif, Majida M; Amalou, Ghita G; Kandil, Mostafa M; Barakat, Abdelhamid A; Lenaers, Guy G

Publication Date: 2022-05-12

Variant appearance in text: SLC45A2: 301C>T

PubMed Link: 35551639

Variant Present in the following documents:

• 13023_2022_2340_MOESM2_ESM.xlsx, sheet 1

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Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

The Journal Of Investigative Dermatology

Hutton, Saunie M SM; Spritz, Richard A RA

Publication Date: 2008-10

Variant appearance in text: OCA4: 301C>T

PubMed Link: 18463683

Variant Present in the following documents:

• Main text

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