Varaico: Literature-Extracted Genetic Variants

Gene:GATD3
Variant:p.S102R
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GATD3

NM_004649.8:p.S102R

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

40841990 (PubMed )
Supplement: CGE-109-305-s001.docx
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