Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D32
Variant:p.S1109delFs
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TBC1D32

NM_152730.6:p.S1109delFs

Associated Papers

Expanding the clinical and molecular spectrum of TBC1D32-related ciliopathy: case reports and literature Review.

Eiumtrakul W et al.

Journal of Human Genetics, 2025

Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities.

Drexler KA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.

Harris SC et al.

American Journal of Medical Genetics. Part A, 2023

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