Varaico: Literature-Extracted Genetic Variants

Gene:ECI1
Variant:p.D88E
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ECI1

NM_001919.4:p.D88E

Associated Papers

Association of mitochondrial variants and haplogroups identified by whole exome sequencing with Alzheimer's disease.

Zhang X et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_3
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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."