Varaico: Literature-Extracted Genetic Variants

Gene:ZDHHC9
Variant:p.R298*
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ZDHHC9

NM_016032.4:p.R298*

Associated Papers

Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.

Mir A et al.

Bmc Medical Genomics, 2023

ZDHHC9 X-linked intellectual disability: Clinical and molecular characterization.

Ramos AKS et al.

American Journal of Medical Genetics. Part A, 2023

GCP16 stabilizes the DHHC9 subfamily of protein acyltransferases through a conserved C-terminal cysteine motif.

Nguyen PL et al.

Frontiers in Physiology, 2023

Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability.

Schirwani S et al.

American Journal of Medical Genetics. Part A, 2018

The first patient with sporadic X-linked intellectual disability with de novo ZDHHC9 mutation identified by targeted next-generation sequencing.

Han JY et al.

European Journal of Medical Genetics, 2017

Expanding the clinical phenotype of patients with a ZDHHC9 mutation.

Masurel-Paulet A et al.

American Journal of Medical Genetics. Part A, 2014

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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."