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Article

Genetic analysis of hyperemesis gravidarum reveals association with intracellular calcium release channel (RYR2).

Molecular and cellular endocrinology - 5 Jan 2017

Fejzo Marlena Schoenberg, Myhre Ronny, Colodro-Conde Lucía, MacGibbon Kimber W, Sinsheimer Janet S, Reddy M V Prasad Linga, Pajukanta Päivi, Nyholt Dale R, Wright Margaret J, Martin Nicholas G, Engel Stephanie M, Medland Sarah E, Magnus Per, Mullin Patrick M

Abstract excerpt

Hyperemesis Gravidarum (HG), severe nausea/vomiting in pregnancy (NVP), can cause poor maternal/fetal outcomes. Genetic predisposition suggests the genetic component is essential in discovering an etiology. We performed whole-exome sequencing of 5 families followed by analysis of variants in 584 cases/431 controls. Variants in RYR2 segregated with disease in 2 families. The novel variant L3277R was not found in...

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Identifiers

PMID: 27663074
DOI: 10.1016/j.mce.2016.09.017
PMCID: PMC6464816

Genes

RYR2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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