Mutation Report for: 445kbdel_human-NLGN4X445kbdel_human-NLGN4X Gene_Locus | | | human-NLGN4X |
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Mode of mutation | | | Natural mutant |
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Amino Acid change | | | |
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Torpedo number | | | |
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Summary | | | |
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Comment | | | 445 Kb deletion on Xp22.3 that includes the entire NLGN4X in a 2.5 year old female (46,XX) with congenital hypotonia, strabismus, ASD, and increased aggressive behavior |
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Kinetic parameters | | | none |
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