Varaico: Literature-Extracted Genetic Variants

Gene:HNRNPUL1
Variant:p.R46L
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HNRNPUL1

NM_007040.6:p.R46L

Associated Papers

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Choufani S et al.

American Journal of Human Genetics, 2022

36130591 (PubMed )
Supplement: mmc3.pdf
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