https://medlineplus.gov/genetics/gene/recql4/
RECQL4 gene: MedlinePlus Genetics
The RECQL4 gene provides instructions for making one member of a protein family called RecQ helicases. Learn about this gene and related health conditions.
genemedlineplus
https://www.repository.cam.ac.uk/items/46014d3a-05ce-423a-90a0-b0baf6a8a6c3
Functional Characterisation of a RECQL4 Mutation in Rothmund-Thomson Syndrome
Germline mutations affecting the RECQL4 DNA helicase cause Type II Rothmund-Thomson syndrome (RTS), a human disease characterised by defects in skeletal...
of afunctionalcharacterisationmutationthomson