Varaico: Literature-Extracted Genetic Variants

Gene:FAM161A
Variant:p.Q243delFs
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FAM161A

NM_001201543.2:p.Q243delFs

Associated Papers

Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.

Midgley N et al.

Molecular Genetics & Genomic Medicine, 2024

39676705 (PubMed )
Supplement: MGG3-12-e70046-s001.xlsx › Supplementary_Table_2

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
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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."