Varaico: Literature-Extracted Genetic Variants

Gene:PKDCC
Variant:p.G140fs
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PKDCC

NM_138370.3:p.G140fs

Associated Papers

Prenatal diagnosis of a skeletal disorder characterized by rhizomelic shortening of limbs caused by compound heterozygous variants in the PKDCC gene: Case report and literature review.

Wang J et al.

Molecular Genetics & Genomic Medicine, 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."