Publications:

Primary cells derived from Tuberous Sclerosis Complex patients show autophagy alteration in the haploinsufficiency state.

Genetics And Molecular Biology

Rosset, Clévia C; Jaeger, Mariane da Cunha MDC; Filippi-Chiela, Eduardo E; Reis, Larissa Brussa LB; Sartor, Ivaine Taís Sauthier ITS; Oliveira Netto, Cristina Brinckmann CB; Farias, Caroline Brunetto de CB; Roesler, Rafael R; Ashton-Prolla, Patricia P

Publication Date: 2021

Variant appearance in text: TSC2: 1008T>G

PubMed Link: 34609442

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-44-4-e20200475.pdf

View BVdb publication page

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: 1008T>G

PubMed Link: 28968464

Variant Present in the following documents:

• Main text
• pone.0185713.pdf

View BVdb publication page