Varaico: Literature-Extracted Genetic Variants

Gene:TCTN3
Variant:p.Q184*
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TCTN3

NM_015631.6:p.Q184*

Associated Papers

Prenatally detected encephalocele associated with a novel pathogenic TCTN3 variant: A case report and literature review.

Huljev Frković S et al.

American Journal of Medical Genetics. Part A, 2022

Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature.

Turkyilmaz A et al.

Genetic Testing and Molecular Biomarkers, 2021

Whole exome sequencing for prenatal diagnosis in cases with fetal anomalies: Criteria to improve diagnostic yield.

Yadava SM et al.

Journal of Genetic Counseling, 2019

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