P011: Variant interpretation in functionally defined patients: Lessons from methionine synthase deficiency (cblG)

David Rosenblatt , Caitlin Zacharias , Kyana Arbabian , David Watkins , Jean-Baptiste Riviere , Brian Gilfix , Krithika Ragupathi
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P011:功能定义患者的变异解释:蛋氨酸合成酶缺乏症(cblG)的教训
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