Varaico: Literature-Extracted Genetic Variants

Gene:POLR1A
Variant:p.E1098G
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POLR1A

NM_015425.6:p.E1098G

Associated Papers

A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.

Moresco G et al.

Genes & Genomics, 2025

39467966 (PubMed )
Supplement: 13258_2024_1589_MOESM1_ESM.xlsx › Foglio1
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