Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.H1620fs
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ZFHX3

NM_006885.4:p.H1620fs

Associated Papers

ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes.

He MF et al.

Journal of Medical Genetics, 2024

38508705 (PubMed )
Supplement: jmg-2023-109725supp004.pdf

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Nassir N et al.

Human Genomics, 2021

34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbLOF
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