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A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9

CLINICAL GENETICS (2023)

Journal

CLINICAL GENETICS

Volume 103, Issue 1, Pages 127-129

Publisher

WILEY

DOI: 10.1111/cge.14237

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Genetics & Heredity

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