Varaico: Literature-Extracted Genetic Variants

Gene:MNAT1
Variant:p.L241F
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MNAT1

NM_002431.4:p.L241F

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
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