Varaico: Literature-Extracted Genetic Variants

Gene:TTC8
Variant:p.E384E
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TTC8

NM_144596.4:p.E384E

Associated Papers

Phenotypic diversity observed in a Chinese patient cohort with biallelic variants in Bardet-Biedl syndrome genes.

Zhong J et al.

Eye (london, England), 2023

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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."