Novel mutations of FRMD7 in Chinese patients with congenital motor nystagmus.

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Novel mutations of FRMD7 in Chinese patients with congenital motor nystagmus.

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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Novel mutations of FRMD7 in Chinese patients with congenital motor nystagmus.

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Novel mutations of FRMD7 in Chinese patients with congenital motor nystagmus.

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Novel mutations of FRMD7 in Chinese patients with congenital motor nystagmus.

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P1476

Novel mutations of FRMD7 in Chinese patients with congenital motor nystagmus.

@en

P2093

Qigen Li

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Shiqiang Li

http://www.w3.org/2001/XMLSchema#string

Xiang Zhu

http://www.w3.org/2001/XMLSchema#string

Xiangming Guo

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Xiaoyun Jia

http://www.w3.org/2001/XMLSchema#string

Xiuhua Jia

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P2860

Molecular cloning and characterization of CDEP, a novel human protein containing the ezrin-like domain of the band 4.1 superfamily and the Dbl homology domain of Rho guanine nucleotide exchange factors

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

A method and server for predicting damaging missense mutations

Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture

A FERM-adjacent (FA) region defines a subset of the 4.1 superfamily and is a potential regulator of FERM domain function.

Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.

Congenital motor nystagmus linked to Xq26-q27.

Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus

FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.

P304

1753-1758

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P31

scholarly article

P356

10.3892/MMR.2017.6824

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P433

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P478

http://www.w3.org/2001/XMLSchema#string

P577

2017-06-20T00:00:00Z

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P698

28656292

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P921

birth defect

P932

5562100

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