Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.S188Splc
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TPM2

NM_003289.4:p.S188Splc

Associated Papers

Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy.

Schirwani S et al.

Neuromuscular Disorders : Nmd, 2021

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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."