Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.V157delFs
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RP1

NM_006269.2:p.V157delFs

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

KBG syndrome involving a single-nucleotide duplication in ANKRD11.

Kleyner R et al.

Cold Spring Harbor Molecular Case Studies, 2016

27900361 (PubMed )
Supplement: supp_mcs.a001131_Supp_File_4_Tables_1-3.zip › Supplementary_Table_1.xlsx › VAAST_results_38836_recessive.c
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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."