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Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy (2022)

First Author: Francesca Magrinelli

Attributed to: Exosomal protein deficiencies: how abnormal RNA metabolism results in childhood-onset neurological diseases funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.60692/rxxcd-sj176

Publication URI: https://gresis.osc.int//doi/10.60692/rxxcd-sj176

Type: Other