Varaico: Literature-Extracted Genetic Variants

Gene:KIDINS220
Variant:p.N1108S
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KIDINS220

NM_020738.4:p.N1108S

Associated Papers

Detection of pathogenic novel intronic splicing variants in the KIDINS220 gene causes motor developmental delay.

Bai L et al.

Artificial Cells, Nanomedicine, and Biotechnology, 2026

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 › HLMS08_het

Pure Hereditary Spastic Paraplegia in a Patient With a Novel Heterozygous KIDINS220 Gene Mutation.

Al Hussein HS et al.

Cureus, 2024

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › _8773__III-7_
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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."