Varaico: Literature-Extracted Genetic Variants

Gene:SCYL2
Variant:p.V542insFs
Back to variants list

SCYL2

NM_017988.6:p.V542insFs

Associated Papers

Novel SCYL2 Mutations and Arthrogryposis Multiplex Congenita 4: Case Report and Review of the Literature.

Zamel K et al.

International Journal of Molecular Sciences, 2025

SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?

Malbos M et al.

Clinical Genetics, 2024

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.

Al-Kasbi G et al.

Scientific Reports, 2022

Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.

Seidahmed MZ et al.

Human Genetics, 2020

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.

Al-Nabhani M et al.

Clinical Genetics, 2018

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."