Varaico: Literature-Extracted Genetic Variants

Gene:NSUN2
Variant:p.R305delFs
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NSUN2

NM_017755.6:p.R305delFs

Associated Papers

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child.

Komara M et al.

Journal of Molecular Neuroscience : Mn, 2015

Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar.

Fahiminiya S et al.

Clinical Genetics, 2014

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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."