KL c.819+8880T>C

Variant ID: 13-33600277-T-C

NM_004795.3(KL):c.819+8880T>C

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Polymorphisms and avascular necrosis in patients with sickle cell disease - A systematic review.

Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo
Leandro, Márcio Passos MP; Almeida, Natália Damasceno ND; Hocevar, Lara Santana LS; Sá, Cloud Kennedy Couto de CKC; Souza, Amâncio José de AJ; Matos, Marcos Almeida MA
Publication Date: 2022

Variant appearance in text: rs516306
PubMed Link: 35584416
Variant Present in the following documents:
  • Main text
  • 1984-0462-rpp-40-e2021013.pdf
View BVdb publication page



Changes in expression of klotho affect physiological processes, diseases, and cancer.

Iranian Journal Of Basic Medical Sciences
Xuan, Nguyen Thi NT; Hai, Nong Van NV
Publication Date: 2018-01

Variant appearance in text: rs516306
PubMed Link: 29372030
Variant Present in the following documents:
  • Main text
  • IJBMS-21-3.pdf
View BVdb publication page



Klotho gene polymorphisms and their association with sickle cell disease phenotypes.

Revista Brasileira De Hematologia E Hemoterapia
Lustosa Souza, Claudia R CR; Azevedo Shimmoto, Marily M MM; Vicari, Perla P; Mecabo, Grazielle G; Arruda, Martha Mariana MM; Figueiredo, Maria Stella MS
Publication Date: 2015

Variant appearance in text: rs516306
PubMed Link: 26190435
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Klotho: its various functions and association with sickle cell disease subphenotypes.

Revista Brasileira De Hematologia E Hemoterapia
de Souza Pacheco, Ana Paula Almeida AP; Goncalves, Marilda M
Publication Date: 2014

Variant appearance in text: rs516306
PubMed Link: 25453654
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



The search for genetic modifiers of disease severity in the β-hemoglobinopathies.

Cold Spring Harbor Perspectives In Medicine
Lettre, Guillaume G
Publication Date: 2012-10-01

Variant appearance in text: rs516306
PubMed Link: 23028136
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lack of association of Klotho gene variants with valvular and vascular calcification in Caucasians: a candidate gene study of the Framingham Offspring Cohort.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Tangri, Navdeep N; Alam, Ahsan A; Wooten, Eric C EC; Huggins, Gordon S GS
Publication Date: 2011-12

Variant appearance in text: rs516306
PubMed Link: 21565945
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.

Genomics Insights
Driss, A A; Asare, K O KO; Hibbert, J M JM; Gee, B E BE; Adamkiewicz, T V TV; Stiles, J K JK
Publication Date: 2009-07-30

Variant appearance in text: rs516306
PubMed Link: 20401335
Variant Present in the following documents:
  • Main text
  • gei-2-2009-023.pdf
View BVdb publication page



Sickle cell leg ulcers: associations with haemolysis and SNPs in Klotho, TEK and genes of the TGF-beta/BMP pathway.

British Journal Of Haematology
Nolan, Vikki G VG; Adewoye, Adeboye A; Baldwin, Clinton C; Wang, Ling L; Ma, Qianli Q; Wyszynski, Diego F DF; Farrell, John J JJ; Sebastiani, Paola P; Farrer, Lindsay A LA; Steinberg, Martin H MH
Publication Date: 2006-06

Variant appearance in text: rs516306
PubMed Link: 16681647
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of klotho, bone morphogenic protein 6, and annexin A2 polymorphisms with sickle cell osteonecrosis.

Blood
Baldwin, Clinton C; Nolan, Vikki G VG; Wyszynski, Diego F DF; Ma, Qian-Li QL; Sebastiani, Paola P; Embury, Stephen H SH; Bisbee, Alice A; Farrell, John J; Farrer, Lindsay L; Steinberg, Martin H MH
Publication Date: 2005-07-01

Variant appearance in text: rs516306
PubMed Link: 15784727
Variant Present in the following documents:
  • Main text
View BVdb publication page