Varaico: Literature-Extracted Genetic Variants

Gene:KIDINS220
Variant:p.A1576V
Back to variants list

KIDINS220

NM_020738.4:p.A1576V

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

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

Al Hussein HS et al.

Cureus, 2024

Genetic Testing in Various Neurodevelopmental Disorders Which Manifest as Cerebral Palsy: A Case Study From Iran.

Nejabat M et al.

Frontiers in Pediatrics, 2021

Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.

Codina-Sola M et al.

Journal of Medical Genetics, 2019

31413120 (PubMed )
Supplement: jmedgenet-2019-106080supp001.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."