Varaico: Literature-Extracted Genetic Variants

Gene:CCDC82
Variant:p.D125delFs
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CCDC82

NM_024725.4:p.D125delFs

Associated Papers

Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.

Yahia A et al.

Annals of Human Genetics, 2022

CCDC82 frameshift mutation associated with intellectual disability, spastic paraparesis, and dysmorphic features.

Bauer G et al.

Clinical Genetics, 2022

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Riazuddin S et al.

Molecular Psychiatry, 2017

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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."