TSC2 c.169del ;(p.R57Afs*4)

Variant ID: 16-2100431-TC-T

NM_000548.3(TSC2):c.169del;(p.R57Afs*4)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.

Plos One
Rosset, Clévia C; Vairo, Filippo F; Bandeira, Isabel Cristina IC; Correia, Rudinei Luis RL; de Goes, Fernanda Veiga FV; da Silva, Raquel Tavares Boy RTB; Bueno, Larissa Souza Mario LSM; de Miranda Gomes, Mireille Caroline Silva MCS; Galvão, Henrique de Campos Reis HCR; Neri, João I C F JICF; Achatz, Maria Isabel MI; Netto, Cristina Brinckmann Oliveira CBO; Ashton-Prolla, Patricia P
Publication Date: 2017

Variant appearance in text: TSC2: 169del
PubMed Link: 28968464
Variant Present in the following documents:
  • Main text
View BVdb publication page