Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.P231L
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TSC1

NM_000368.5:p.P231L

Associated Papers

Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.

Ferrer-Avargues R et al.

Cancer Communications (london, England), 2021

33630411 (PubMed )
Supplement: CAC2-41-218-s001.xlsx › Table_S3_

Genetics of renovascular hypertension in children.

Viering DHHM et al.

Journal of Hypertension, 2020

Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Bahl S et al.

Molecular Autism, 2013

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