Jessica Kachmar
jkachmar.bsky.social
Jessica Kachmar
@jkachmar.bsky.social
Reposted by Jessica Kachmar
Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique

https://bit.ly/4glVIxd

#ADTKD #CKD
February 6, 2025 at 11:00 AM
Reposted by Jessica Kachmar
Last publication from the HKD-lab...
Special congratulations to Jessica and @hassansaei.bsky.social as well as to all collaborators!
#kidney #ADTKD #MUC1

www.sciencedirect.com/science/arti...
Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique
Molecular diagnosis of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in the MUC1 gene has long been challenging since v…
www.sciencedirect.com
January 24, 2025 at 9:23 AM