Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings https://www.medrxiv.org/content/10.1101/2023.04.19.23288824
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings https://www.medrxiv.org/content/10.1101/2023.04.19.23288824