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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM53

Variant:p.K21fs

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TMEM53

NM_024587.4:p.K21fs

hg38:chr1:44660295 CT>N

Associated Papers

Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype.

van Ommeren B et al.

American Journal of Medical Genetics. Part A, 2025

39300972 (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."