Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.I192N
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ACTB

NM_001101.5:p.I192N

Associated Papers

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Tollefson MR et al.

Human Genetics, 2023

37086329 (PubMed )
Supplement: 439_2023_2559_MOESM3_ESM.xlsx › Sheet1

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.

Dawidziuk M et al.

Genes, 2021

34946966 (PubMed )
Supplement: genes-12-02014-s001.zip › Supplementary_Table_S1_Patients_details.xlsx › Patients
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