Varaico: Literature-Extracted Genetic Variants

Gene:TTLL5
Variant:p.R130Q
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TTLL5

NM_015072.5:p.R130Q

Associated Papers

Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity.

Miller C et al.

Ophthalmic Genetics, 2025

39763302 (PubMed )
Supplement: supplement_1.xlsx › Supplementary_Table_2
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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."