Varaico: Literature-Extracted Genetic Variants

Gene:RARS2
Variant:p.K158_E159delFs
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RARS2

NM_020320.5:p.K158_E159delFs

Associated Papers

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3

Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center.

Xue H et al.

Scientific Reports, 2024

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM12_ESM.xlsx › Sheet3
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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."