Varaico: Literature-Extracted Genetic Variants

Gene:CAMSAP3
Variant:p.P508T
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CAMSAP3

NM_020902.2:p.P508T

Associated Papers

Germline variants in UHRF1 are associated with multilocus imprinting disturbance in humans and mice.

Ochoa E et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40825131 (PubMed )
Supplement: pnas.2505884122.sd01.xlsx › Sheet1

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1013.391
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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."