Varaico: Literature-Extracted Genetic Variants

Gene:CPAP
Variant:p.G1101Splc
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CPAP

NM_018451.5:p.G1101Splc

Associated Papers

A novel leaky splice variant in centromere protein J (CENPJ)-associated Seckel syndrome.

Yadav N et al.

Annals of Human Genetics, 2022

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.

Parry DA et al.

Genes & Development, 2020

33060134 (PubMed )
Supplement: supp_gad.340190.120_Supplemental_Table_S3.xlsx › Table_S3
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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."