Varaico: Literature-Extracted Genetic Variants

Gene:TCTN1
Variant:p.L6delFs
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TCTN1

NM_001082538.3:p.L6delFs

Associated Papers

Meckel-Gruber Syndrome due to Homozygous c.16del (p.Leu6SerfsTer15) Variant in the TCTN1: First Case from Türkiye.

Turan L et al.

Molecular Syndromology, 2025

Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease.

Ercoskun P et al.

Clinical Genetics, 2025

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