Varaico: Literature-Extracted Genetic Variants

Gene:DYNC1H1
Variant:p.V823L
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DYNC1H1

NM_001376.5:p.V823L

Associated Papers

Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies.

Lin Z et al.

Scientific Reports, 2017

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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