Varaico: Literature-Extracted Genetic Variants

Gene:EFHC1
Variant:p.T175_I176del2
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EFHC1

NM_018100.4:p.T175_I176del2

Associated Papers

Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families.

Pinto D et al.

Epilepsia, 2006

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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."