Publications:

Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: PIKFYVE: 3308A>G; Lys1103Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.

Molecular Vision

Gee, Jessica A JA; Frausto, Ricardo F RF; Chung, Duk-Won D DW; Tangmonkongvoragul, Chulaluck C; Le, Derek J DJ; Wang, Cynthia C; Han, Jonathan J; Aldave, Anthony J AJ

Publication Date: 2015

Variant appearance in text: PIKFYVE: 3308A>G; Lys1103Arg

PubMed Link: 26396486

Variant Present in the following documents:

• Main text
• mv-v21-1093.pdf

View BVdb publication page

A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy.

Molecular Vision

Kawasaki, Satoshi S; Yamasaki, Kenta K; Nakagawa, Hiroko H; Shinomiya, Katsuhiko K; Nakatsukasa, Mina M; Nakai, Yoshihide Y; Kinoshita, Shigeru S

Publication Date: 2012

Variant appearance in text: PIKFYVE: 3308A>G; K1103R

PubMed Link: 23288988

Variant Present in the following documents:

• Main text
• mv-v18-2954.pdf

View BVdb publication page

The IC3D classification of the corneal dystrophies.

Cornea

Weiss, Jayne S JS; Møller, H U HU; Lisch, Walter W; Kinoshita, Shigeru S; Aldave, Anthony J AJ; Belin, Michael W MW; Kivelä, Tero T; Busin, Massimo M; Munier, Francis L FL; Seitz, Berthold B; Sutphin, John J; Bredrup, Cecilie C; Mannis, Mark J MJ; Rapuano, Christopher J CJ; Van Rij, Gabriel G; Kim, Eung Kweon EK; Klintworth, Gordon K GK

Publication Date: 2008-12

Variant appearance in text: PIP5K3: 3308A>G

PubMed Link: 19337156

Variant Present in the following documents:

• Main text

View BVdb publication page

Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy.

American Journal Of Human Genetics

Li, Shouling S; Tiab, Leila L; Jiao, Xiaodong X; Munier, Francis L FL; Zografos, Leonidas L; Frueh, Béatrice E BE; Sergeev, Yuri Y; Smith, Janine J; Rubin, Benjamin B; Meallet, Mario A MA; Forster, Richard K RK; Hejtmancik, J Fielding JF; Schorderet, Daniel F DF

Publication Date: 2005-07

Variant appearance in text: PIP5K3: K1103R

PubMed Link: 15902656

Variant Present in the following documents:

• Main text

View BVdb publication page