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Article

Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.

Journal of human genetics - 1 Jan 2007

Liu Jing Yu, Ren Xiang, Yang Xiufeng, Guo Tangying, Yao Qi, Li Lin, Dai Xiaohua, Zhang Mingchang, Wang Lejin, Liu Mugen, Wang Qing K

Abstract excerpt

Congenital nystagmus is characterized by involuntary, rhythmical, repeated oscillations of one or both eyes. We studied a large Chinese family with nystagmus as a prominent and consistent manifestation phenotype in nine patients to map and identify a disease-causing gene for nystagmus. X-linked r...

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PMID: 17516023
DOI: 10.1007/s10038-007-0152-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17516023-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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