GC c.863del ;(p.N288Ifs*39)

Variant ID: 4-72622599-AT-A

NM_000583.3(GC):c.863del;(p.N288Ifs*39)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: GC: 863del
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



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: GC: 863delA
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations.

Molecular Genetics & Genomic Medicine
Huang, Limin L; Li, Liyan L; Lin, Sheng S; Chen, Juanjuan J; Li, Kun K; Fan, Dongmei D; Jin, Wangjie W; Li, Yihong Y; Yang, Xu X; Xiong, Yufeng Y; Li, Fenxia F; Yang, Xuexi X; Li, Ming M; Li, Qiang Q
Publication Date: 2020-11

Variant appearance in text: GC: 863delA
PubMed Link: 32875744
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1482.pdf
View BVdb publication page