Varaico: Literature-Extracted Genetic Variants

Gene:TTLL5
Variant:p.L81V
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TTLL5

NM_015072.5:p.L81V

Associated Papers

Novel pathogenic variants in Tubulin Tyrosine Like 5 (TTLL5) associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype.

Kolawole OU et al.

Molecular Vision, 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."