Publications:

Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.

Plos One

Fidalgo, Felipe F; Torrezan, Giovana Tardin GT; Sá, Bianca Costa Soares de BCS; Barros, Bruna Durães de Figueiredo BDF; Moredo, Luciana Facure LF; Valieris, Renan R; de Souza, Sandro J SJ; Duprat, João Pereira JP; Krepischi, Ana Cristina Victorino ACV; Carraro, Dirce Maria DM

Publication Date: 2022

Variant appearance in text: EXOC3L1: 131C>T; Pro44Leu; rs150417999

PubMed Link: 35085295

Variant Present in the following documents:

• pone.0262419.s002.xlsx, sheet 1
• pone.0262419.s004.xlsx, sheet 1

View BVdb publication page

Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.

Plos One

Fidalgo, Felipe F; Torrezan, Giovana Tardin GT; Sá, Bianca Costa Soares de BCS; Barros, Bruna Durães de Figueiredo BDF; Moredo, Luciana Facure LF; Valieris, Renan R; de Souza, Sandro J SJ; Duprat, João Pereira JP; Krepischi, Ana Cristina Victorino ACV; Carraro, Dirce Maria DM

Publication Date: 2022

Variant appearance in text: EXOC3L1: 131C>T; Pro44Leu; rs150417999

PubMed Link: 35085295

Variant Present in the following documents:

• pone.0262419.s002.xlsx, sheet 1
• pone.0262419.s004.xlsx, sheet 1

View BVdb publication page

A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4.

Journal Of Clinical Laboratory Analysis

Mohamadian, Malihe M; Ghandil, Pegah P; Naseri, Mohsen M; Bahrami, Afsane A; Momen, Ali Akbar AA

Publication Date: 2020-11

Variant appearance in text: EXOC3L1: P44L

PubMed Link: 33079427

Variant Present in the following documents:

• JCLA-34-e23484-s001.xlsx, sheet 2

View BVdb publication page

Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: EXOC3L1: P44L; rs150417999

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: EXOC3L1: 131C>T; Pro44Leu

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page