Varaico: Literature-Extracted Genetic Variants

Gene:IPO13
Variant:p.R219C
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IPO13

NM_014652.4:p.R219C

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › IPK1_het

De Novo Variants Found in Three Distinct Schizophrenia Populations Hit a Common Core Gene Network Related to Microtubule and Actin Cytoskeleton Gene Ontology Classes.

Loe-Mie Y et al.

Life (basel, Switzerland), 2024

38398753 (PubMed )
Supplement: life-14-00244-s001.zip › Supplementary_Table_2_SZ.xlsx › Feuil5

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1861.653
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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."