Varaico: Literature-Extracted Genetic Variants

Gene:DYNC1H1
Variant:p.R251L
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DYNC1H1

NM_001376.5:p.R251L

Associated Papers

Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.

Fernández-Eulate G et al.

Neurology. Genetics, 2023

A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report.

Derksen A et al.

Child Neurology Open, 0

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