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A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9.
Mangalore S Shravya
Mary Mathew
Akhila Vasudeva
Katta Mohan Girisha
Shalini S Nayak
Published in:
Clinical genetics (2022)
Keyphrases
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intellectual disability
case report