Varaico: Literature-Extracted Genetic Variants

Gene:DLEC1
Variant:p.E676K
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DLEC1

NM_007335.4:p.E676K

Associated Papers

Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.

Nazarenko MS et al.

International Journal of Molecular Sciences, 2022

36012502 (PubMed )
Supplement: ijms-23-09234-s001.zip › Supplementary_Files › Supplementary_Table_S1.xlsx › Variants__A_and_B_category

Embryonic signature distinguishes pediatric and adult rhabdoid tumors from other SMARCB1-deficient cancers.

Richer W et al.

Oncotarget, 2017

28427232 (PubMed )
Supplement: oncotarget-08-34245-s004.xlsx › Sheet_1
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