Varaico: Literature-Extracted Genetic Variants

Gene:RNF180
Variant:p.S353F
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RNF180

NM_001113561.2:p.S353F

Associated Papers

Exome sequencing implicates a novel heterozygous missense variant in DSTYK in autosomal dominant lower urinary tract dysfunction and mild hereditary spastic paraparesis.

Vidic C et al.

Molecular and Cellular Pediatrics, 2021

34608560 (PubMed )
Supplement: 40348_2021_122_MOESM3_ESM.xlsx › Tabelle1
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