@mtzimmermann
Moving Beyond the Basepairs until Everyone is N-of-One. Scientist, Computational Structural Genomics.
@mtzimmermann LinkedIn
@mtzimmermann LinkedIn
@mtzimmermann Bluesky
@mtzimmermann Bluesky
@mtzimmermann X
@mtzimmermann X
Computational Structural Genomics
Multi-State Structural Genomics Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases | MDPI
Multi-State Structural Genomics Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases | MDPI
Genetic variation in ATP Binding Cassette Subfamily C Member 6 (ABCC6) can cause both pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI).
Integration of Multi-level Molecular Scoring for the Interpretation of RAS-Family Genetic Variation | bioRxiv
Integration of Multi-level Molecular Scoring for the Interpretation of RAS-Family Genetic Variation | bioRxiv
bioRxiv - the preprint server for biology, operated by openRxiv, a nonprofit organization dedicated to advancing scientific communication
BAF Swi/Snf
ec.bioscientifica.com
ec.bioscientifica.com
Disease Discovery
pubmed.ncbi.nlm.nih.gov
pubmed.ncbi.nlm.nih.gov
<span><b><i>Background:</i></b> Expanded analysis of tumor genomics data enables current and future patients to gain more benefits, such as improving diagnosis, prognosis, and therapeutics. <b><i>Methods:</i></b> Here, we report tumor genomic data from 1146 cases accompanied by simultaneous expert analysi</span> …
Discovery of a MET -driven monogenic cause of steatotic liver disease - PubMed
Discovery of a MET -driven monogenic cause of steatotic liver disease - PubMed
We report the first germline nonmalignant rare MET -driven disease, a monogenic form of SLD.
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