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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TPM3

Variant:p.E165_V166Splc

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TPM3

NM_152263.4:p.E165_V166Splc

hg38:chr1:154172987 A>G

Associated Papers

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

Morgan NV et al.

American Journal of Human Genetics, 2006

16826531 (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."