A de novo TRPV4 variant c.2479C>G (p.Pro827Ala) in Spondylometaphyseal dysplasia Kozlowski type: identification and functional analysis. (academic.oup.com)

Authors: Teng C … Zhang J Journal: Human Molecular Genetics Published: 2026-07-15 DOI: https://doi.org/10.1093/hmg/ddag064