Varaico: Literature-Extracted Genetic Variants

Gene:TCTN2
Variant:p.V85delFs
Back to variants list

TCTN2

NM_024809.5:p.V85delFs

Associated Papers

Novel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel-Gruber Syndrome 8 in a Non-Consanguineous Chinese Family.

Yang Q et al.

Molecular Genetics & Genomic Medicine, 2025

Two novel TCTN2 mutations cause Meckel-Gruber syndrome.

Zhang M et al.

Journal of Human Genetics, 2020

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.

Al-Hamed MH et al.

Journal of Medical Genetics, 2016

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
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."