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P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1 di Shruthi Mohan, Irene De Biase, Tatiana Yuzyuk, Alexa Dickson, Tiziano Pramparo, Stephanie Francis, Meredith Weaver, Raquel Fernandez, Sharon Suchy, Ann Moser, Rong Mao, Nancy Braverman
Pubblicazione 2024-01-01
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O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience di Emily Groopman, Amanda Thomas-Wilson, Shruthi Mohan, Jennifer Goldstein, Meredith Weaver, Raquel Fernandez, Heidi Wallis, Ljuba Caldovic, Nicholas Ah Mew, Irene De Biase, Ann Moser, Sharon Suchy, Tatiana Yuzyuk, Sarah Young, Saadet Mercimek-Andrews, Nancy Braverman, Rong Mao
Pubblicazione 2023-01-01
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Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse. di Michael F Wangler, Yu-Hsin Chao, Vafa Bayat, Nikolaos Giagtzoglou, Abhijit Babaji Shinde, Nagireddy Putluri, Cristian Coarfa, Taraka Donti, Brett H Graham, Joseph E Faust, James A McNew, Ann Moser, Marco Sardiello, Myriam Baes, Hugo J Bellen
Pubblicazione 2017-06-01
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