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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NARS1

Variant:p.Q505_R506insFs

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NARS1

NM_004539.4:p.Q505_R506insFs

hg38:chr18:57602355 C>CN

Associated Papers

Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach.

Jaramillo Oquendo C et al.

Genome Medicine, 2024

39252027 (PubMed )

Supplement: 13073_2024_1381_MOESM2_ESM.xlsx › Table_S1

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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."