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Article

Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb-girdle muscular dystrophy-18.

Clinical genetics - 1 Nov 2021

Hadouiri Nawale, Thomas Quentin, Darmency Véronique, Dulieu Véronique, De Rougemont Marie-Gabrielle Mourot, Bruel Ange-Line, Duffourd Yannis, Lecoquierre François, Colomb Benoit, Perez-Martin Stéphanie, Ornetti Paul, Blanchard Olivier, Sorlin Arthur, Philippe Christophe, Faivre Laurence, Vitobello Antonio, Thauvin-Robinet Christel

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Share to Amino Acid Substitution
Share to Chromosomes, Human, Pair 4
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Infant, Newborn

Share to Muscular Dystrophies, Limb-Girdle

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Identifiers

PMID: 34435357
DOI: 10.1111/cge.14045

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