Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TSC2

Variant:p.P1458_Y1461del4

Back to variants list

TSC2

NM_000548.5:p.P1458_Y1461del4

hg38:chr16:2084593 GCCCCGAGGTTAC>G

Associated Papers

First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.

Reyna-Fabián ME et al.

Scientific Reports, 2020

32313033 (PubMed )

Supplement: 41598_2020_62759_MOESM1_ESM.pdf

Select a paper to view details

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."