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Q47891384-4843D92E-FCC7-411E-B63A-CD6D99D53196
Q47891384-4843D92E-FCC7-411E-B63A-CD6D99D53196
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47891384-4843D92E-FCC7-411E-B63A-CD6D99D53196
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).
P2860
Q47891384-4843D92E-FCC7-411E-B63A-CD6D99D53196
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47891384-4843D92E-FCC7-411E-B63A-CD6D99D53196
rank
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type
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Statement
wasDerivedFrom
7578333c86c8d0406e9a87919d0e399d88a108f7
P2860
A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib