Varaico: Literature-Extracted Genetic Variants

Gene:POLA1
Variant:p.D154Y
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POLA1

NM_001330360.2:p.D154Y

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 › HLMS13

Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.

Best S et al.

Journal of Medical Genetics, 2022

34716235 (PubMed )
Supplement: jmedgenet-2021-108065supp001.pdf
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