Varaico: Literature-Extracted Genetic Variants

Gene:CPEB2
Variant:p.K194ins2
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CPEB2

NM_001177382.2:p.K194ins2

Associated Papers

Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Nagasawa S et al.

Communications Biology, 2021

33795819 (PubMed )
Supplement: 42003_2021_1959_MOESM5_ESM.xlsx › CaseB

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 2._minor_allele_frequency_1

The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity.

Damgaard RB et al.

Cell, 2016

27523608 (PubMed )
Supplement: mmc2.xlsx › Homozygous_Variants_S2

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1045.400
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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."