Whole exome sequencing of 5 members of IPEX family. Homo sapiens
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Whole exome sequencing of 5 members of IPEX family.
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2013-03-26
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Additional file 3: of Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families
Table S2. Two-point linkage analysis using 3 genetic markers in the DA2B family (XLSX 9 kb)
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Additional file 4: of Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome
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