Varaico: Literature-Extracted Genetic Variants

Gene:SMG9
Variant:p.V184A
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SMG9

NM_019108.4:p.V184A

Associated Papers

Effect of nonsense-mediated mRNA decay factor SMG9 deficiency on premature aging in zebrafish.

Lai S et al.

Communications Biology, 2024

A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development.

Rahikkala E et al.

European Journal of Human Genetics : Ejhg, 2022

Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing.

Yang Q et al.

Bmc Medical Genomics, 2022

Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.

Kurki MI et al.

Nature Communications, 2019

30679432 (PubMed )
Supplement: 41467_2018_8262_MOESM5_ESM.xlsx › Sheet1
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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."