Varaico: Literature-Extracted Genetic Variants

Gene:TBCC
Variant:p.Q112*
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TBCC

NM_003192.3:p.Q112*

Associated Papers

Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.

Kim J et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39802765 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_2

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.

Bamford RN et al.

Nature Genetics, 2000

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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."