Varaico: Literature-Extracted Genetic Variants

Gene:TBCE
Variant:p.S511P
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TBCE

NM_003193.5:p.S511P

Associated Papers

Further delineation of phenotype and genotype of Kenny-Caffey syndrome type 2 (phenotype and genotype of KCS type 2).

Chen X et al.

Molecular Genetics & Genomic Medicine, 2024

Clinical and genetic features of Kenny-Caffey syndrome type 2 with multiple electrolyte disturbances: A case report.

Yuan N et al.

World Journal of Clinical Cases, 2023

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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."