Varaico: Literature-Extracted Genetic Variants

Gene:TMEM17
Variant:p.R94W
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TMEM17

NM_198276.3:p.R94W

Associated Papers

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.

Boutaud L et al.

Clinical Genetics, 2026

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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."