Varaico: Literature-Extracted Genetic Variants

Gene:SMG9
Variant:p.H316R
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SMG9

NM_019108.4:p.H316R

Associated Papers

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

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.

Guo H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."