Varaico: Literature-Extracted Genetic Variants

Gene:NMNAT1
Variant:p.G15S
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NMNAT1

NM_022787.4:p.G15S

Associated Papers

Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review.

Kayazawa T et al.

Ophthalmic Genetics, 2022

35026968 (PubMed )
Supplement: supplement_1.pdf

Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population.

Wang S et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2016

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