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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NDUFAF7

Variant:p.P195_I196delFs

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NDUFAF7

NM_144736.5:p.P195_I196delFs

hg38:chr2:37241751 TCCAA>T

Associated Papers

Isolated nigral degeneration without pathological protein aggregation in autopsied brains with LRRK2 p.R1441H homozygous and heterozygous mutations.

Takanashi M et al.

Acta Neuropathologica Communications, 2018

30333048 (PubMed )

Supplement: 40478_2018_617_MOESM1_ESM.docx

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."