Expanding the phenotype associated with biallelic SLC20A2 variants

Eur J Hum Genet. 2023 Jul;31(7):725-729. doi: 10.1038/s41431-023-01349-1. Epub 2023 Mar 28.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • Brain Diseases* / genetics
  • Humans
  • Mutation
  • Phenotype
  • Sodium-Phosphate Cotransporter Proteins, Type III / genetics

Substances

  • Sodium-Phosphate Cotransporter Proteins, Type III
  • SLC20A2 protein, human