Varaico: Literature-Extracted Genetic Variants

Gene:NEFH
Variant:p.S431A
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NEFH

NM_021076.4:p.S431A

Associated Papers

O-GlcNAcylation regulates neurofilament-light assembly and function and is perturbed by Charcot-Marie-Tooth disease mutations.

Huynh DT et al.

Biorxiv : the Preprint Server for Biology, 2023

Clinicopathological and molecular genomic features of monomorphic epitheliotropic intestinal T-cell lymphoma in the Chinese population: a study of 20 cases.

Chen C et al.

Diagnostic Pathology, 2021

34895266 (PubMed )
Supplement: 13000_2021_1173_MOESM1_ESM.xlsx › ST1
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