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UnknownEnhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain.
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S-EPMC2778764 | biostudies-literature
UnknownSpectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.
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S-EPMC3612789 | biostudies-literature
UnknownCancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.
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S-EPMC4402457 | biostudies-literature
UnknownJoint analysis of germline genetic data from over 29,000 cases with suspected hereditary breast and ovarian cancer (HBOC) as part of the NASGE initiative.
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S-EPMC11804772 | biostudies-literature
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