A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort.

İzem Olcay Şahin Emine Karataş Mikail Demir Büşra Tan Huseyin Per Yusuf Ozkul Munis Dündar

Published in: Turkish journal of medical sciences (2023)

Therefore, the NGS method proves highly effective in diagnosing rare diseases characterized by clinical heterogeneity. Assessing variants based on ethnicity holds significance in the development of precise therapies.

Keyphrases

case report
single cell
metabolic syndrome