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BBS7 c.2014+305T>A
Variant ID: 4-122748996-A-T
NM_176824.2(
BBS7
):c.2014+305T>A
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Rs11726196 Single-Nucleotide Polymorphism of the Transient Receptor Potential Canonical 3 (TRPC3) Gene Is Associated with Chronic Pain.
International Journal Of Molecular Sciences
Aoki, Yoshinori Y; Nishizawa, Daisuke D; Ohka, Seii S; Kasai, Shinya S; Arita, Hideko H; Hanaoka, Kazuo K; Yajima, Choku C; Iseki, Masako M; Kato, Jitsu J; Ogawa, Setsuro S; Hiranuma, Ayako A; Hasegawa, Junko J; Nakayama, Kyoko K; Ebata, Yuko Y; Ichinohe, Tatsuya T; Hayashida, Masakazu M; Fukuda, Ken-Ichi KI; Ikeda, Kazutaka K
Publication Date: 2023-01-05
Variant appearance in text: rs1048433
PubMed Link:
36674543
Variant Present in the following documents:
ijms-24-01028.pdf
View BVdb publication page
Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.
Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11
Variant appearance in text: rs1048433
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.
Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021
Variant appearance in text: rs1048433
PubMed Link:
33791233
Variant Present in the following documents:
Table_2.xlsx, sheet 1
View BVdb publication page