Article

CRISPR/Cas9 generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction

2023-05-16

Abstract excerpt

<title>Abstract</title> <p>An estimated 3.5–5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases can be difficult to diagnose, with patients experiencing diagnostic delays of 5–30 years. Next generation sequencing has improved clinical diagnostic rates to 33–48% however a novel potentially disease causative variant is often iden...

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Literature Corpus work: 3a3ed588-614d-545d-a2e1-0c12c26e6855
DOI: 10.21203/rs.3.rs-2914803/v1

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