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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EN1

Variant:p.Q268delFs

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EN1

NM_001426.4:p.Q268delFs

hg38:chr2:118846364 CT>C

Associated Papers

Neurodevelopmental defects and neurodegenerative phenotypes in human brain organoids carrying Parkinson's disease-linked DNAJC6 mutations.

Wulansari N et al.

Science Advances, 2021

33597231 (PubMed )

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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."