Varaico: Literature-Extracted Genetic Variants

Gene:CADPS2
Variant:p.M630T
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CADPS2

NM_017954.11:p.M630T

Associated Papers

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 838.321

Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.

Bonora E et al.

Embo Molecular Medicine, 2014

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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."