Varaico: Literature-Extracted Genetic Variants

Gene:TTC8
Variant:p.Q48_A49Splc
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TTC8

NM_144596.4:p.Q48_A49Splc

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

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.

Harville HM et al.

Journal of Medical Genetics, 2010

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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."