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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPLX1

Variant:p.K51_A61del0

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CPLX1

NM_006651.4:p.K51_A61del0

hg38:chr4:792456 CGGCCTCGCGCTCCGCCTCCATCTTGGCGTACTT>C

Associated Papers

Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.

Nagarajan B et al.

Epilepsia Open, 2023

37583270 (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."