Varaico: Literature-Extracted Genetic Variants

Gene:SMG8
Variant:p.R387*
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SMG8

NM_018149.7:p.R387*

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

A Patient-Derived Xenograft Model of Dedifferentiated Endometrial Carcinoma: A Proof-of-Concept Study for the Identification of New Molecularly Informed Treatment Approaches.

Lin CY et al.

Cancers, 2021

34885073 (PubMed )
Supplement: cancers-13-05962-s001.zip › TableS1_gene.mutation.catalog-S1-09282021.xlsx › supp_gene.mutation.catalog
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