Genetics in Medicine Open (Jan 2024)

P145: Paradigm shift in Occam’s Razor and the need for genotype driven reverse phenotyping in rare diseases with complex phenotypes*

  • Moon Ley Tung,
  • Bharatendu Chandra,
  • Jaime Nagy,
  • Hatem El-Shanti,
  • John Bernat,
  • Nicole Safina,
  • Amy Calhoun,
  • Georgianne Younger,
  • Kyle Dillahunt,
  • Anna Paulson,
  • Taylor Warner,
  • Hannah Bombei,
  • Jaclyn Kotlarek

Journal volume & issue
Vol. 2
p. 101042

Abstract

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