Varaico: Literature-Extracted Genetic Variants

Gene:FAM161A
Variant:p.R226_K227delFs
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FAM161A

NM_001201543.2:p.R226_K227delFs

Associated Papers

The genetic landscape of inherited retinal dystrophies in Arabs.

Jaffal L et al.

Bmc Medical Genomics, 2023

37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1

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

Bouzidi A et al.

Orphanet Journal of Rare Diseases, 2022

35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM2_ESM.xlsx › Feuil_1

Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations.

Beryozkin A et al.

Scientific Reports, 2020

32938956 (PubMed )
Supplement: 41598_2020_72028_MOESM1_ESM.pdf

Identifying mutations in Tunisian families with retinal dystrophy.

Habibi I et al.

Scientific Reports, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."