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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRIM17

Variant:p.L400_T402delFs

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TRIM17

NM_016102.4:p.L400_T402delFs

hg38:chr1:228408429 GGTGGATA>G

Associated Papers

Ocular evaluation and genetic test for an early Alström Syndrome diagnosis.

Etheridge T et al.

American Journal of Ophthalmology Case Reports, 2020

32944671 (PubMed )

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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."