Publications:

Targeted Sequencing of Ascites and Peritoneal Washing Fluid of Patients With Gastrointestinal Cancers and Their Clinical Applications and Limitations.

Frontiers In Oncology

Bae, Go Eun GE; Kim, Seok-Hwan SH; Choi, Min Kyung MK; Kim, Jin-Man JM; Yeo, Min-Kyung MK

Publication Date: 2021

Variant appearance in text: TSC2: S315L

PubMed Link: 34336700

Variant Present in the following documents:

• Main text
• fonc-11-712754.pdf

View BVdb publication page

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: TSC2: 944C>T; Ser315Leu

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

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High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.

Plos One

Kelleher, Raymond J RJ; Geigenmüller, Ute U; Hovhannisyan, Hayk H; Trautman, Edwin E; Pinard, Robert R; Rathmell, Barbara B; Carpenter, Randall R; Margulies, David D

Publication Date: 2012

Variant appearance in text: TSC2: 944C>T

PubMed Link: 22558107

Variant Present in the following documents:

• pone.0035003.s004.pdf

View BVdb publication page