A novel stop-gain
            <i>NF1</i>
            variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas

Fukunaga, Naoko; Hayashi, Takaaki; Yamada, Yuki; Mizobuchi, Kei; Ohta, Arihito; Nakano, Tadashi

doi:10.1080/13816810.2023.2245464

Ophthalmic Genetics

2023

DOI: 10.1080/13816810.2023.2245464

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A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas

Naoko Fukunaga,

Takaaki Hayashi,

Yuki Yamada

et al.

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A case of autosomal dominant optic atrophy with decreased contrast sensitivity of S-cones

Fukuda,

Igarashi,

Ohira

et al. 2023

Nihon Shinō Kunrenshi Kyōkaishi

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A case of autosomal dominant optic atrophy with decreased contrast sensitivity of S-cones

Fukuda,

Igarashi,

Ohira

et al. 2023

Nihon Shinō Kunrenshi Kyōkaishi

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show abstract

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A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas

Cited by 1 publication

References 26 publications

A case of autosomal dominant optic atrophy with decreased contrast sensitivity of S-cones

A case of autosomal dominant optic atrophy with decreased contrast sensitivity of S-cones

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