Varaico: Literature-Extracted Genetic Variants

Gene:DIS3L2
Variant:p.C489Y
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DIS3L2

NM_152383.5:p.C489Y

Associated Papers

Structural and mechanistic insights into Dis3L2-mediated degradation of structured RNA.

Matos RG et al.

Rna (new York, N.y.), 2025

Ribonucleases in Mendelian disease: Characterization and insight from model organisms.

Dutta A et al.

Genes & Diseases, 2025

41630789 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Long term survival of a patient with Perlman syndrome due to novel compound heterozygous missense mutations in RNB domain of DIS3L2.

Soma N et al.

American Journal of Medical Genetics. Part A, 2017

Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2.

Morris MR et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2013

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility.

Astuti D et al.

Nature Genetics, 2012

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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."