학술논문

Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression of the functional transcript.
Document Type
Article
Source
Frontiers in Neurology; 2023, p1-8, 8p
Subject
SPINAL muscular atrophy
RECESSIVE genes
RNA analysis
NEUROMUSCULAR diseases
GENETIC variation
HETEROZYGOSITY
Language
ISSN
16642295
Abstract
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