All individuals with variants in gene PCK1

6 entries on 1 page. Showing entries 1 - 6.
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AscendingIndividual ID     

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VIP     

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Owner     
00080922 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - PCKDC Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency (OMIM:261680) 1 1 Daniel Trujillano
00151811 - - - F - (Germany) - - 0 - - ? Hypoglycemia (HP:0001943); Increased serum lactate (HP:0002151); Ketosis (HP:0001946) 1 1 IMGAG
00292957 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 73 Mohammed Faruq
00304865 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00324428 Fam1PatII3/4 PubMed: Vieira 2017 2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F yes Finland - - 0 - dietary precautions ? neonatal hypoglycemia (HP:0001998), recurrent hypoglycemia (HP:0001988), hypoglycemic coma (HP:0001325) 2 2 Elisa Rahikkala
00377066 Fam2PatII2 PubMed: Vieira 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Finland - - 0 - - ? see paper; ... 1 1 Elisa Rahikkala
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