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Dissemin
Arianna Anzmann
Jurgens et al., 2019
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@misc{Jurgens2019, author = {Jurgens, Julie and Chen, Suming and Sobreira, Nara and Robbins, Sarah and Anzmann, Arianna Franca and Dastgheyb, Raha and Khuder, Saja S. and Hoover-Fong, Julie and Woods, Courtney and Collins, Felicity and Christodoulou, John and Yamamoto, Guilherme Lopes and Bertola, Débora Romeo and Baratela, Wagner A. R. and Curie, Sophie D. and Haughey, Norman and Cornell, Rosemary and Valle, David}, month = {dec}, title = {Loss of function variants in PCYT1A causing spondylometaphyseal dysplasia with cone/rod dystrophy have broad consequences on lipid metabolism, chondrocyte differentiation, and lipid droplet formation}, year = {2019} }
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Loss of function variants in PCYT1A causing spondylometaphyseal dysplasia with cone/rod dystrophy have broad consequences on lipid metabolism, chondrocyte differentiation, and lipid droplet formation
Published in 2019 by
Julie Jurgens
,
Suming Chen
,
Nara Sobreira
,
Sarah Robbins
,
Arianna Franca Anzmann
,
Raha Dastgheyb
,
Saja S. Khuder
,
Julie Hoover-Fong
,
Courtney Woods
,
Felicity Collins
,
John Christodoulou
,
Guilherme Lopes Yamamoto
,
Débora Romeo Bertola
,
Wagner A. R. Baratela
,
Sophie D. Curie
and
other authors.
Julie Jurgens
,
Suming Chen
,
Nara Sobreira
,
Sarah Robbins
,
Arianna Franca Anzmann
,
Raha Dastgheyb
,
Saja S. Khuder
,
Julie Hoover-Fong
,
Courtney Woods
,
Felicity Collins
,
John Christodoulou
,
Guilherme Lopes Yamamoto
,
Débora Romeo Bertola
,
Wagner A. R. Baratela
,
Sophie D. Curie
,
Norman Haughey
,
Rosemary Cornell
,
David Valle
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