Varaico: Literature-Extracted Genetic Variants

Gene:TCAP
Variant:p.M71T
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TCAP

NM_003673.4:p.M71T

Associated Papers

Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis.

Jaouadi H et al.

Frontiers in Medicine, 2024

Pure hypotonia in a four-year-old patient: An atypical presentation of Dopa-responsive dystonia.

Eye PG et al.

Journal of the Neurological Sciences, 2019

L-dopa reversal of muscular spasm, vomiting and insomnia in a patient with an atypical form of familial dystonia.

Coleman MP et al.

Transactions of the American Neurological Association, 1969

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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."