Expanding acmg variant classification guidelines into a general framework

HIGHLIGHTS

• who: Emmanuelle Masson from the F‑, Brest, France have published the research: Expanding ACMG variant classification guidelines into a general framework, in the Journal: (JOURNAL) of 12/04/2022
• what: Bearing in mind that any general conceptual proposal should be based upon sound data the authors focused the analysis on the four most extensively studied CP genes PRSS1 CFTR SPINK1 and CTRC​. As for the CTRC​ variants, the authors propose to reclassify all "pathogenic" variants listed in the Genetic Risk_Factors in Chronic Pancreatitis Database as CP "predisposing". To make a distinction at this juncture, the . . .
  

   

  

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