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Your search keyword '"Shwachman-Diamond Syndrome genetics"' showing total 3 results

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3 results on '"Shwachman-Diamond Syndrome genetics"'

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1. Somatic genetic rescue of a germline ribosome assembly defect.

2. EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.

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3. Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.