Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.G519S
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RP1L1

NM_178857.6:p.G519S

Associated Papers

Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.

Zou H et al.

Nucleic Acids Research, 2022

35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S2_new.xlsx › Sheet1

Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients.

Ng TK et al.

Eye (london, England), 2022

Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.

Zhou YY et al.

Frontiers in Genetics, 2022

35464846 (PubMed )
Supplement: Table1.xlsx › DX1515_20D2319547R
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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."