Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance by Amina Kurtovic-Kozaric, Lejla Delalic, Belma Mutapcic, Lejla Comor, Eric Siciliano, Mark J. Kiel

Subjects: Get full text

Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data by Jane Hübertz Frederiksen, Ulf Birkedal, Sarah Bachmann, Elisabeth Victoria Eliesen, Lene Juel Rasmussen, Katja Venborg Pedersen, Lana Al‐Zehhawi, Susanne E. Boonen, Lotte Krogh, Karina Rønlund, Lise Graversen, Jannie Assenholt, Kjeld Schmiegelow, Karin Wadt, Anne‐Marie Gerdes, Thomas v. O. Hansen

Subjects: “…ACMG/AMP classification…”
Get full text