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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OBSL1

Variant:p.V426_K427del0

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OBSL1

NM_015311.3:p.V426_K427del0

hg38:chr2:219568054 CCTTTGA>C

Associated Papers

Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey.

Akalın A et al.

European Journal of Pediatrics, 2024

39643721 (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."