Publications:

Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines

Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA

Publication Date: 2021-08-20

Variant appearance in text: TG: 2929delC

PubMed Link: 34417462

Variant Present in the following documents:

• 41541_2021_358_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.

Molecular Autism

De Rubeis, Silvia S; Siper, Paige M PM; Durkin, Allison A; Weissman, Jordana J; Muratet, François F; Halpern, Danielle D; Trelles, Maria Del Pilar MDP; Frank, Yitzchak Y; Lozano, Reymundo R; Wang, A Ting AT; Holder, J Lloyd JL; Betancur, Catalina C; Buxbaum, Joseph D JD; Kolevzon, Alexander A

Publication Date: 2018

Variant appearance in text: TG: 2928delC

PubMed Link: 29719671

Variant Present in the following documents:

• 13229_2018_205_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page