Varaico: Literature-Extracted Genetic Variants

Gene:TMEM17
Variant:p.N102K
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TMEM17

NM_198276.3:p.N102K

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

Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy Spectrum.

Pardo LM et al.

Clinical Genetics, 2025

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.

Li C et al.

Plos Biology, 2016

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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."