Expanding the clinical and genetic spectrum of pathogenic variants in STIM1.

Chiara TicciDenise CassandriniAnna RubegniBeatrice RivaGaetano VattemiSabrina MatàGiulia RicciJacopo BaldacciValeria GuglielmiAntonio Di MuzioAlessandro MalandriniPaola ToninGabriele SicilianoAntonio FedericoArmando A GenazzaniFilippo M SantorelliLuciano Merlini

Published in: Muscle & nerve (2021)

Our clinical, histological, and molecular data expand the genetic and clinical spectrum of STIM1-related diseases.

Keyphrases

copy number
machine learning
big data