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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CD2AP

Variant:p.K243_P244Splc

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CD2AP

NM_012120.3:p.K243_P244Splc

hg38:chr6:47576520 C>T

Associated Papers

Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.

Vaisitti T et al.

Journal of Nephrology, 2021

33226606 (PubMed )

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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."