Varaico: Literature-Extracted Genetic Variants

Gene:ACACA
Variant:p.F56delFs
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ACACA

NM_198834.3:p.F56delFs

Associated Papers

Strategies for genetic study of hearing loss in the Brazilian northeastern region.

Melo US et al.

International Journal of Molecular Epidemiology and Genetics, 2014

Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity.

Angeli SI

The Laryngoscope, 2008

Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.

Wu BL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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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."