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The top documents tagged [heterozygous mutation]
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SKMEL-19: T1799A (V600E), homozygous GTG -> GAG Supplemental Figure 1. Representative Mass Spectrometry and Sanger traces for the SKMEL-19 and SKMEL-32
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NEU-LAXOVA SYNDROME IS A HETEROGENEOUS METABOLIC DISORDER CAUSED BY DEFECTS IN ENZYMES OF THE L-SERINE BIOSYNTHESIS PATHWAY ARIANA KARIMINEJAD Kariminejad-Najmabadi
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1 Mukund Modak, Ph. D. Dental Biochemistry 2013 Lecture 39
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