PKDCC c.639+943C>T

Variant ID: 2-42276921-C-T

NM_138370.2(PKDCC):c.639+943C>T

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: rs4952590
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genetic risk score based on the prevalence of vertebral fracture in Japanese women with osteoporosis.

Bone Reports
Zhou, Heying H; Mori, Seijiro S; Ishizaki, Tatsuro T; Takahashi, Atsushi A; Matsuda, Koichi K; Koretsune, Yukihiro Y; Minami, Shiro S; Higashiyama, Masahiko M; Imai, Shinji S; Yoshimori, Kozo K; Doita, Minoru M; Yamada, Akira A; Nagayama, Satoshi S; Kaneko, Kazuo K; Asai, Satoshi S; Shiono, Masaki M; Kubo, Michiaki M; Ito, Hideki H
Publication Date: 2016-12

Variant appearance in text: rs4952590
PubMed Link: 28580384
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Complex genetics of pulmonary diseases: lessons from genome-wide association studies and next-generation sequencing.

Translational Research : The Journal Of Laboratory And Clinical Medicine
Pouladi, Nima N; Bime, Christian C; Garcia, Joe G N JGN; Lussier, Yves A YA
Publication Date: 2016-02

Variant appearance in text: rs4952590
PubMed Link: 26006746
Variant Present in the following documents:
  • Main text
View BVdb publication page



A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS).

Bmc Medical Genetics
Castro-Giner, Francesc F; Bustamante, Mariona M; Ramon González, Juan J; Kogevinas, Manolis M; Jarvis, Deborah D; Heinrich, Joachim J; Antó, Josep-Maria JM; Wjst, Matthias M; Estivill, Xavier X; de Cid, Rafael R
Publication Date: 2009-12-06

Variant appearance in text: rs4952590
PubMed Link: 19961619
Variant Present in the following documents:
  • Main text
  • 1471-2350-10-128.pdf
View BVdb publication page