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Autosomal Recessive Pattern

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2 documents available in our comprehensive collection of Autosomal Recessive Pattern resources. Find practical guides, tutorials, and documentation to enhance your knowledge.

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Download Sample Report (WES-Noncoding-Variant-Sample-Report-2022-Final.pdf)

416 KBBlueprint GeneticsEN 8 pages
A 29-year-old patient with intellectual disability, anemia, 5-oxoprolinuria, and retinitis pigmentosa was found to be homozygous for the GSS c.129+1663A>G...
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(hgv201545.pdf)

608 KBIngrid M WentzensenEN 3 pages
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You can download PDF versions of the user's guide, manuals and ebooks about Autosomal Recessive Pattern, you can also find and download for free A free online manual (notices) with beginner and intermediate resources.