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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CC2D2A

Variant:p.I1006_S1010del5

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CC2D2A

NM_001378615.1:p.I1006_S1010del5

hg38:chr4:15563352 TAGCATTTTGGGCCTA>T

Associated Papers

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.

D'Abrusco F et al.

European Journal of Human Genetics : Ejhg, 2025

39394465 (PubMed )

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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."