Publications:

---

Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: TSC2: 429C>G; F143L

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

---

TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: TSC2: F143L; rs137854406

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s004.xlsx, sheet 6
• pcbi.1007453.s004.xlsx, sheet 2
• pcbi.1007453.s002.xlsx, sheet 1

View BVdb publication page

---

Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex.

Scientific Reports

Ye, Yicong Y; Zeng, Yong Y

Publication Date: 2019-03-14

Variant appearance in text: TSC2: F143L

PubMed Link: 30872599

Variant Present in the following documents:

• Main text
• 41598_2019_Article_38898.pdf

View BVdb publication page

---

Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.

Genes

Hebert, Eva E; Borngräber, Friederike F; Schmidt, Alexander A; Rakovic, Aleksandar A; Brænne, Ingrid I; Weissbach, Anne A; Hampf, Jennie J; Vollstedt, Eva-Juliane EJ; Größer, Leopold L; Schaake, Susen S; Müller, Michaela M; Manzoor, Humera H; Jabusch, Hans-Christian HC; Alvarez-Fischer, Daniel D; Kasten, Meike M; Kostic, Vladimir S VS; Gasser, Thomas T; Zeuner, Kirsten E KE; Kim, Han-Joon HJ; Jeon, Beomseok B; Bauer, Peter P; Altenmüller, Eckart E; Klein, Christine C; Lohmann, Katja K

Publication Date: 2017-10-18

Variant appearance in text: TSC2: 429C>G; F143L

PubMed Link: 29057844

Variant Present in the following documents:

• genes-08-00276-s001.pdf

View BVdb publication page

---

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

Molecular Autism

Bahl, Samira S; Chiang, Colby C; Beauchamp, Roberta L RL; Neale, Benjamin M BM; Daly, Mark J MJ; Gusella, James F JF; Talkowski, Michael E ME; Ramesh, Vijaya V

Publication Date: 2013-03-20

Variant appearance in text: TSC2: F143L

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

View BVdb publication page

---

Genetics and molecular biology of tuberous sclerosis complex.

Current Genomics

Napolioni, Valerio V; Curatolo, Paolo P

Publication Date: 2008-11

Variant appearance in text: TSC2: F143L

PubMed Link: 19506736

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.

Bmc Medical Genetics

Nellist, Mark M; Sancak, Ozgür O; Goedbloed, Miriam M; Adriaans, Alwin A; Wessels, Marja M; Maat-Kievit, Anneke A; Baars, Marieke M; Dommering, Charlotte C; van den Ouweland, Ans A; Halley, Dicky D

Publication Date: 2008-02-26

Variant appearance in text: TSC2: F143L

PubMed Link: 18302728

Variant Present in the following documents:

• Main text
• 1471-2350-9-10.pdf

View BVdb publication page

---