Varaico: Literature-Extracted Genetic Variants

Gene:ABCC12
Variant:p.G164*
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ABCC12

NM_001393797.1:p.G164*

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › SPK9_het

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Saleheen D et al.

Nature, 2017

28406212 (PubMed )
Supplement: NIHMS857566-supplement-Suppl__Table_1.xlsx › Supplementary_Table_1

Next-generation sequencing in familial breast cancer patients from Lebanon.

Jalkh N et al.

Bmc Medical Genomics, 2017

Analysis of Low Frequency Protein Truncating Stop-Codon Variants and Fasting Concentration of Growth Hormone.

Hallengren E et al.

Plos One, 2015

26086970 (PubMed )
Supplement: pone.0128348.s002.xlsx › Sheet1
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