Varaico: Literature-Extracted Genetic Variants

Gene:TMEM216
Variant:p.Q23H
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TMEM216

NM_001330285.2:p.Q23H

Associated Papers

Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.

Malka S et al.

American Journal of Human Genetics, 2024

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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."