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Updated: Jan 19, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D)

Muhammad Umair1,2, Amjad Khan2,3, Amir Hayat4

  • 1Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.

Frontiers in Pediatrics
|September 27, 2019
PubMed

Keywords:
DA5DECEL1contracturesdistal arthrogryposismissense mutation

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