Varaico: Literature-Extracted Genetic Variants

Gene:HACL2
Variant:p.E392K
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HACL2

NM_006844.5:p.E392K

Associated Papers

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.

Ververi A et al.

Human Molecular Genetics, 2023

36067010 (PubMed )
Supplement: supplemental_table_2-shared_rare_variants_patients_6_and_7_ddac225.xlsx › HI-DEPDC5_commun_variants_

NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Reinhold WC et al.

Plos One, 2014

25032700 (PubMed )
Supplement: pone.0101670.s002.xlsx › Sup_Table_2
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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."