Varaico: Literature-Extracted Genetic Variants

Gene:TTC8
Variant:p.S334delFs
Back to variants list

TTC8

NM_144596.4:p.S334delFs

Associated Papers

A novel protein truncating mutation of TTC8 causes Bardet-Biedl Syndrome (BBS) in a Pakistani family.

Fatima S et al.

Genetics and Molecular Biology, 2026

Deletion in the Bardet-Biedl Syndrome Gene TTC8 Results in a Syndromic Retinal Degeneration in Dogs.

Mäkeläinen S et al.

Genes, 2020

32962042 (PubMed )
Supplement: genes-11-01090-s001.zip › genes-11-01090-s001 › genes-926292-supplementary › Ma_kela_inen_Supplementary_tables_S1-S6.xlsx › Table_S6
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."