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Germline variants in genes of the Subcortical Maternal Complex and Multilocus Imprinting Disturbance (PADI6 and NLRP2) are associated with miscarriage/infertility or Beckwith-Wiedemann progeny.

Harvard Dataverse (Africa Rice Center, Bioversity International, CCAFS, CIAT, IFPRI, IRRI and WorldFish)

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Title Germline variants in genes of the Subcortical Maternal Complex and Multilocus Imprinting Disturbance (PADI6 and NLRP2) are associated with miscarriage/infertility or Beckwith-Wiedemann progeny.
 
Identifier https://doi.org/10.7910/DVN/ATBYSZ
 
Creator Calzari, Luciano
Tannorella, Pierpaola
Russo, Silvia
 
Publisher Harvard Dataverse
 
Description This dataset contains the data for the paper Tannorella et al., "Germline variants in genes of the Subcortical Maternal Complex and Multilocus Imprinting Disturbance are associated with Miscarriage/infertility or Beckwith-Wiedemann progeny". In this paper, two unrelated mothers of BWS patients carrying hypo-methylation in the KCNQ1OT1:TSS DMR (11p15.5) and showing an MLID (Multilocus Imprinting Disturbance) condition, were investigated by exome sequencing: one experiencing 8 miscarriages with a compound heterozygous PADI6 variant (mother of BWS Case 1) and another with a history of conception difficulties with a novel homozygous nonsense NLRP2 variant (mother of BWS Case 2).
 
Subject Medicine, Health and Life Sciences
 
Contributor Calzari, Luciano