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Andrey Marakhonov
Far Eastern Federal University
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#1Andrey Marakhonov (Far Eastern Federal University)
#2T. A. VasilyevaH-Index: 2
Last.R.A. Zinchenko (RSMU: Russian National Research Medical University)H-Index: 5
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#1Peter SparberH-Index: 1
#2Andrey Marakhonov (Far Eastern Federal University)
Last.Mikhail Skoblov (Far Eastern Federal University)H-Index: 1
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Neurodegeneration with brain iron accumulation type 4 (NBIA4) also known as MPAN (mitochondria protein-associated neurodegeneration) is a rare neurological disorder which main feature is brain iron accumulation most frequently in the globus pallidus and substantia nigra. Whole exome sequencing (WES) in a 12-year-old patient revealed 2 variants in the C19orf12 gene, a previously reported common 11 bp deletion c.204_214del11, p.(Gly69Argfs*10) and a novel splicing variant c.193+5G>A. Functional an...
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