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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GTF2H2C

Variant:p.S237_P238delins

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GTF2H2C

NM_001376000.2:p.S237_P238delins

hg38:chr5:69579818 TCCT>ATCCCCAGTA

Associated Papers

Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria.

Jenkinson EM et al.

Clinical Genetics, 2018

28386946 (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."