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Arthrogryposis, distal type 1 (sequence analysis of TPM2 gene)
+ info
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Arthrogryposis, distal type 1B (sequence analysis of MYBPC1 gene)
+ info
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Arthrogryposis, distal type 2B (sequence analysis of MYH3 gene)
+ info
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Arthrogryposis, distal type 2B (sequence analysis of TNNI2 gene)
+ info
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Arthrogryposis, distal type 2B (sequence analysis of TNNT3 gene)
+ info
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Arthrogryposis, distal type 2B (sequence analysis of WAS gene)
+ info
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Arthrogryposis, mental retardation and seizures (sequence analysis of SLC35A3 gene)
+ info
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Arthrogryposis, renal dysfunction and cholestasis 1 (deletion/duplication analysis of VPS33B gene)
+ info
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Arthrogryposis, renal dysfunction and cholestasis 1 (sequence analysis of VPS33B gene)
+ info
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Arthropathy, progressive pseudorheumatoid of childhood (sequence analysis of WISP3 gene)
+ info
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Ashkenazi panel (NGS panel of 26 genes)
+ info
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Asparaginesynthetase deficiency (sequence analysis of ASNS gene)
+ info
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Aspartylglucosaminuria (deletion/duplication analysis on AGA gene)
+ info
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Asperger syndrome, X-linked (deletion/duplication analysis on NLGN4X gene)
+ info
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Asperger syndrome, X-linked 1 (sequence analysis of NLGN3 gene)
+ info
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Asperger syndrome, X-linked 2 (sequence analysis of NLGN4X gene)
+ info
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Asphyxiating thoracic dystrophy (sequence analysis of DYNC2H1 and IFT80 genes)
+ info
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Asphyxiating thoracic dystrophy 2 (sequence analysis of IFT80 gene)
+ info
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Asphyxiating thoracic dystrophy 3 (sequence analysis of DYNC2H1 gene)
+ info
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Asphyxiating thoracic dystrophy 4 (sequence analysis of TTC21B gene)
+ info
