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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCDC27

Variant:p.R287_E288Splc

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CCDC27

NM_152492.3:p.R287_E288Splc

hg38:chr1:3761436 C>A

Associated Papers

Whole exome sequencing reveals heparan sulfate proteoglycan 2 (HSPG2) as a potential causative gene for kidney stone disease in a Thai family.

Praditsap O et al.

Urolithiasis, 2024

39680213 (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."