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Protein domains provide a new layer of information for clas..:
Mélanie Corcuff
;
Marc Garibal
;
Jean-Pierre Desvignes
...
https://www.frontiersin.org/articles/10.3389/fbinf.2023.1127341/full. , 2023
Link:
https://doi.org/10.3389/fbinf.2023.1127341
RT Journal T1
Protein domains provide a new layer of information for classifying human variations in rare diseases
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:09c230dfc30e468b8da3427bb96c6d89&Exemplar=1&LAN=DE A1 Mélanie Corcuff A1 Marc Garibal A1 Jean-Pierre Desvignes A1 Céline Guien A1 Coralie Grattepanche A1 Gwenaëlle Collod-Béroud A1 Estelle Ménoret A1 David Salgado A1 Christophe Béroud PB Frontiers Media S.A. YR 2023 K1 ACMG guidelines K1 variant classification K1 PM1 K1 PM2 K1 BS1 K1 BP8 K1 Computer applications to medicine. Medical informatics K1 R858-859.7 JF https://www.frontiersin.org/articles/10.3389/fbinf.2023.1127341/full LK http://dx.doi.org/https://doi.org/10.3389/fbinf.2023.1127341 DO https://doi.org/10.3389/fbinf.2023.1127341 SF ELIB - SuUB Bremen
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