A nonsense variant in the N‐terminal acetyltransferase NAA30 may be associated with global developmental delay and tracheal cleft
Varland, Sylvia, Brønstad, Kirsten Marie, Skinner, Stephanie J., Arnesen, Thomas
Published in American journal of medical genetics. Part A (01.09.2023)
Published in American journal of medical genetics. Part A (01.09.2023)
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Homozygous TRAP1 sequence variant in a child with Leigh syndrome and normal kidneys
Skinner, Stephanie J., Doonanco, Kurston R., Boles, Richard G., Chan, Alicia K.J.
Published in Kidney international (01.10.2014)
Published in Kidney international (01.10.2014)
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Journal Article
A nonsense variant in the N-terminal acetyltransferase NAA30 may be associated with global developmental delay and tracheal cleft
Varland, Sylvia, Brønstad, Kirsten Marie, Skinner, Stephanie J, Arnesen, Thomas
Published in American journal of medical genetics. Part A (01.09.2023)
Published in American journal of medical genetics. Part A (01.09.2023)
Get full text
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