@misc{misc, title  = {{Complexity of genomic diagnosis: Reclassification of COL1A2 p.Gly943Arg variant from Pathogenic to Variant of Uncertain Significance (VUS): lessons learnt from the UK Biobank and Generation study newborn genome sequencing analyses ​}},

 url = {{https://doi.org/10.2139/ssrn.6480940 }},

 year = {{2026}},

 month = {{1}},

 author = {{Sethuraman C and Keigwin S and Delaney S and Makino S and Hirst J and Baker D and Arundel P and Padidela R and Davies JH and Crowe B and De Vile C et al}},

 doi = {{10.2139/ssrn.6480940}},

 note = {{Accessed on 2026/11/06}}}