Publications:

Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.

Npj Genomic Medicine

Tuncay, Islam Oguz IO; Parmalee, Nancy L NL; Khalil, Raida R; Kaur, Kiran K; Kumar, Ashwani A; Jimale, Mohamed M; Howe, Jennifer L JL; Goodspeed, Kimberly K; Evans, Patricia P; Alzghoul, Loai L; Xing, Chao C; Scherer, Stephen W SW; Chahrour, Maria H MH

Publication Date: 2022-02-21

Variant appearance in text: FYCO1: T381M

PubMed Link: 35190550

Variant Present in the following documents:

• 41525_2022_284_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

Genetic variability in COVID-19-related genes in the Brazilian population.

Human Genome Variation

Secolin, Rodrigo R; de Araujo, Tânia K TK; Gonsales, Marina C MC; Rocha, Cristiane S CS; Naslavsky, Michel M; Marco, Luiz De L; Bicalho, Maria A C MAC; Vazquez, Vinicius L VL; Zatz, Mayana M; Silva, Wilson A WA; Lopes-Cendes, Iscia I

Publication Date: 2021

Variant appearance in text: FYCO1: 1142C>T; Thr381Met; rs3733101

PubMed Link: 33824725

Variant Present in the following documents:

• 41439_2021_146_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs3733101

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: FYCO1: T381M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page