point mutation

Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome
Yue Huang, Katheryn Grand, Virginia Kimonis, Merlin G Butler, Suparna Jain, Alden Yen-Wen Huang, Julian A Martinez-Agosto, Stanley F Nelson, Pedro A Sanchez-Lara

Journal of Medical Genetics Jul 2022, 59 (7) 719-722; DOI: 10.1136/jmedgenet-2020-107674
Analysis of 200 000 exome-sequenced UK Biobank subjects illustrates the contribution of rare genetic variants to hyperlipidaemia
David Curtis

Journal of Medical Genetics Jun 2022, 59 (6) 597-604; DOI: 10.1136/jmedgenet-2021-107752
Improving the clinical interpretation of missense variants in X linked genes using structural analysis
Shalaw Rassul Sallah, Jamie M Ellingford, Panagiotis I Sergouniotis, Simon C Ramsden, Nicholas Lench, Simon C Lovell, Graeme C Black

Journal of Medical Genetics Apr 2022, 59 (4) 385-392; DOI: 10.1136/jmedgenet-2020-107404

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