Varaico: Literature-Extracted Genetic Variants

Gene:CC2D2A
Variant:p.L1534V
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CC2D2A

NM_001378615.1:p.L1534V

Associated Papers

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants.

Lam Z et al.

Clinical Dysmorphology, 2020

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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."