Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.D142E
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ECEL1

NM_004826.4:p.D142E

Associated Papers

ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study.

Ahangari N et al.

Molecular Genetics & Genomic Medicine, 2023

Protein domains provide a new layer of information for classifying human variations in rare diseases.

Corcuff M et al.

Frontiers in Bioinformatics, 2023

36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1

Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.

D'Agostino Y et al.

Diagnostics (basel, Switzerland), 2022

36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1
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