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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TECR

Variant:p.M1T

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TECR

NM_138501.6:p.M1T

hg38:chr19:14529698 T>C

Associated Papers

A Novel Claudinopathy Based on Claudin-10 Mutations.

Milatz S

International Journal of Molecular Sciences, 2019

31671507 (PubMed )

Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations.

Moreira ES et al.

Journal of Medical Genetics, 2003

12566530 (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."