Varaico: Literature-Extracted Genetic Variants

Gene:CPED1
Variant:p.K83_V84Splc
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CPED1

NM_024913.5:p.K83_V84Splc

Associated Papers

A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family.

Ramzan S et al.

Genes, 2021

34440456 (PubMed )
Supplement: genes-12-01282-s001.zip › genes-1311391-supplementary.pdf
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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."