Varaico: Literature-Extracted Genetic Variants

Gene:CCDC17
Variant:p.Q72*
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CCDC17

NM_001114938.3:p.Q72*

Associated Papers

Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.

Tolezano GC et al.

Molecular Neurobiology, 2024

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S5-Hom-PTVs
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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."