Use our pre-submission checklist Avoid common mistakes on your manuscript. Sections Figures References Abstract Introduction Podocyte biology Genotype–phenotype correlations in monogenic SRNS Genetic testing; why? Genetic testing; who? Genetic testing; when? Genetic testing; how? Application to SRNS ...
Functional work on HCM-causingFHL1pathogenic variants suggests protein instability and loss of protein as the dominating contributor to disease (Friedrich et al.2012). Moreover, FHL1 is discussed as a gender-specific modifier of disease severity in HCM patients, given its location on the X chromo...