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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TCTN3

Variant:p.R475fs

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TCTN3

NM_015631.6:p.R475fs

hg38:chr10:95682680 CCT>N

Associated Papers

Prenatally detected encephalocele associated with a novel pathogenic TCTN3 variant: A case report and literature review.

Huljev Frković S et al.

American Journal of Medical Genetics. Part A, 2022

35170189 (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."