Varaico: Literature-Extracted Genetic Variants

Gene:SMG8
Variant:p.D220V
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SMG8

NM_018149.7:p.D220V

Associated Papers

Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in SMG8 gene.

Fernandes AA et al.

American Journal of Medical Genetics. Part A, 2023

Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.

Abdel-Salam GMH et al.

American Journal of Medical Genetics. Part A, 2022

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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."