Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D32
Variant:p.L1098Splc
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TBC1D32

NM_001367760.1:p.L1098Splc

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

Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes.

Martinez-Mayer J et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

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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."