Varaico: Literature-Extracted Genetic Variants

Gene:ZDHHC9
Variant:p.C49R
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ZDHHC9

NM_016032.4:p.C49R

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

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

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