Varaico: Literature-Extracted Genetic Variants

Gene:POLR2F
Variant:p.K98Splc
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POLR2F

NM_021974.5:p.K98Splc

Associated Papers

Comprehensive genotype-phenotype analysis in POLR3-related disorders.

Michell-Robinson MA et al.

Hgg Advances, 2025

40684265 (PubMed )
Supplement: mmc4.xlsx › ALL

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.

Järvelä I et al.

Human Genetics, 2021

33710394 (PubMed )
Supplement: 439_2021_2268_MOESM11_ESM.xlsx › Supplementary_Table_1
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