Varaico: Literature-Extracted Genetic Variants

Gene:HEATR4
Variant:p.R216*
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HEATR4

NM_001220484.1:p.R216*

Associated Papers

Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.

Schneider R et al.

Genes & Diseases, 2025

39584075 (PubMed )
Supplement: mmc2.pdf

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M et al.

Molecular Genetics and Genomics : Mgg, 2023

36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_variants
Select a paper to view details
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