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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM39A

Variant:p.Q357*

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TMEM39A

NM_018266.3:p.Q357*

hg38:chr3:119436834 G>A

Associated Papers

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

Otto EA et al.

Nature Genetics, 2005

15723066 (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."