Varaico: Literature-Extracted Genetic Variants

Gene:LRAT
Variant:p.F181fs
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LRAT

NM_004744.5:p.F181fs

Associated Papers

Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.

Zhang P et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var

A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa.

Chen Y et al.

Human Genomics, 2018

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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."