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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TPM3

Variant:p.Q39_L40Splc

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TPM3

NM_152263.4:p.Q39_L40Splc

hg38:chr1:154191323 C>T

Associated Papers

Transcript-Based Diagnosis and Expanded Phenotype of an Intronic Mutation in TPM3 Myopathy.

Yogev Y et al.

Molecular Diagnosis & Therapy, 2022

35796944 (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."