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[Patients with PHP 1a have heterozygous mutations within the exons of the maternal GNAS allele that encode G?(s), whereas patients with PHP 1b have methylation defects in the GNAS locus that reduce transcription of G?(s) from the maternal allele.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
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Gene-disease associations inferred from text-mining the literature.
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DisGeNET evidence - LITERATURE
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