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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM38B

Variant:p.K220_I221Splc

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TMEM38B

NM_018112.3:p.K220_I221Splc

hg38:chr9:105748191 G>A

Associated Papers

Previously Unreported TMEM38B Variant in Osteogenesis Imperfecta Type XIV: A Case Report and Systematic Review of the Literature.

Zoller T et al.

International Journal of Molecular Sciences, 2025

41465594 (PubMed )

Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV.

Kodama Y et al.

Human Genome Variation, 2023

37696855 (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."