KIZ c.119_122del ;(p.K40Ifs*14)

Variant ID: 20-21112767-AAACT-A

NM_018474.4(KIZ):c.119_122del;(p.K40Ifs*14)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: KIZ: 119_122del; Lys40fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: KIZ: 119_122del; rs587777377
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.

Scientific Reports
Jauregui, Ruben R; Chan, Lawrence L; Oh, Jin Kyun JK; Cho, Ahra A; Sparrow, Janet R JR; Tsang, Stephen H SH
Publication Date: 2020-02-25

Variant appearance in text: KIZ: 119_122delAACT; K40IfsX14
PubMed Link: 32098976
Variant Present in the following documents:
  • 41598_2020_60137_MOESM1_ESM.pdf
View BVdb publication page



Multimodal structural disease progression of retinitis pigmentosa according to mode of inheritance.

Scientific Reports
Jauregui, Ruben R; Takahashi, Vitor K L VKL; Park, Karen Sophia KS; Cui, Xuan X; Takiuti, Julia T JT; Lima de Carvalho, Jose Ronaldo JR; Tsang, Stephen H SH
Publication Date: 2019-07-24

Variant appearance in text: KIZ: 119_122delAACT
PubMed Link: 31341231
Variant Present in the following documents:
  • 41598_2019_47251_MOESM1_ESM.pdf
View BVdb publication page



Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy.

Genes
El Shamieh, Said S; Méjécase, Cécile C; Bertelli, Matteo M; Terray, Angélique A; Michiels, Christelle C; Condroyer, Christel C; Fouquet, Stéphane S; Sadoun, Maxime M; Clérin, Emmanuelle E; Liu, Binqian B; Léveillard, Thierry T; Goureau, Olivier O; Sahel, José-Alain JA; Audo, Isabelle I; Zeitz, Christina C
Publication Date: 2017-10-18

Variant appearance in text: KIZ: 119_122del
PubMed Link: 29057815
Variant Present in the following documents:
  • Main text
  • genes-08-00277.pdf
View BVdb publication page



Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.

American Journal Of Human Genetics
El Shamieh, Said S; Neuillé, Marion M; Terray, Angélique A; Orhan, Elise E; Condroyer, Christel C; Démontant, Vanessa V; Michiels, Christelle C; Antonio, Aline A; Boyard, Fiona F; Lancelot, Marie-Elise ME; Letexier, Mélanie M; Saraiva, Jean-Paul JP; Léveillard, Thierry T; Mohand-Saïd, Saddek S; Goureau, Olivier O; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I
Publication Date: 2014-04-03

Variant appearance in text: KIZ: 119_122delAACT; Lys40Ilefs
PubMed Link: 24680887
Variant Present in the following documents:
  • Main text
View BVdb publication page