Varaico: Literature-Extracted Genetic Variants

Gene:HSPG2
Variant:p.Q3854_N3855Splc
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HSPG2

NM_005529.7:p.Q3854_N3855Splc

Associated Papers

Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.

Berry JG et al.

Ebiomedicine, 2025

41202470 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients.

Farshadyeganeh P et al.

Journal of Human Genetics, 2024

Targeted resequencing identifies genes with recurrent variation in cerebral palsy.

van Eyk CL et al.

Npj Genomic Medicine, 2019

31700678 (PubMed )
Supplement: 41525_2019_101_MOESM1_ESM.pdf

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.

McMichael G et al.

Molecular Psychiatry, 2015

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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."