TY  - GEN

T1  - 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 ​

T2  - Elsevier BV

UR  - https://doi.org/10.2139/ssrn.6480940

PY  - 2026/01/01

AU  - Sethuraman C

AU  - Keigwin S

AU  - Delaney S

AU  - Makino S

AU  - Hirst J

AU  - Baker D

AU  - Arundel P

AU  - Padidela R

AU  - Davies JH

AU  - Crowe B

AU  - De Vile C et al

ED  - 

DO  - DOI: 10.2139/ssrn.6480940

Y2  - 2026/11/06

ER  -