Varaico: Literature-Extracted Genetic Variants

Gene:DHX9
Variant:p.G416R
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DHX9

NM_001357.5:p.G416R

Associated Papers

Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences.

Yamada M et al.

European Journal of Medical Genetics, 2023

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.

Jia X et al.

Science Advances, 2022

35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes
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