Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D32
Variant:p.G1061A
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TBC1D32

NM_152730.6:p.G1061A

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

Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome.

García-Bohórquez B et al.

Human Genomics, 2025

40319332 (PubMed )
Supplement: 40246_2025_759_MOESM1_ESM.docx

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

Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.

Liu S et al.

Chinese Medical Journal, 2019

31764169 (PubMed )
Supplement: cm9-132-3001-s001.xlsx › Supplementary_Table_1
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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."