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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TOGARAM1

Variant:p.L375P

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TOGARAM1

NM_001308120.2:p.L375P

hg38:chr14:44963545 T>C

Associated Papers

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.

Latour BL et al.

The Journal of Clinical Investigation, 2020

32453716 (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."