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Article

Exome Sequencing Identified CCER2 as a Novel Candidate Gene for Moyamoya Disease.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 Jan 2017

Mukawa Maki, Nariai Tadashi, Onda Hideaki, Yoneyama Taku, Aihara Yasuo, Hirota Kengo, Kudo Takumi, Sumita Kazutaka, Maehara Taketoshi, Kawamata Takakazu, Kasuya Hidetoshi, Akagawa Hiroyuki

Abstract excerpt

The etiology of Moyamoya disease (MMD) is still largely unclear, despite identification of RNF213 as the most significant susceptibility gene in East Asian patients. Following up our previous study confirming genetic heterogeneity in Japanese patients with MMD, we extensively surveyed novel candidate genes for a new perspective on the etiology of this disease. Two characteristic pedigrees without susceptibility...

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Source

Identifiers

PMID: 27717682
DOI: 10.1016/j.jstrokecerebrovasdis.2016.09.003

Genes

CCER2
MMD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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