Publications:

Identification of potential causal variants for premature ovarian failure by whole exome sequencing.

Bmc Medical Genomics

Jin, Haengun H; Ahn, JuWon J; Park, YoungJoon Y; Sim, JeongMin J; Park, Han Sung HS; Ryu, Chang Soo CS; Kim, Nam Keun NK; Kwack, KyuBum K

Publication Date: 2020-10-27

Variant appearance in text: TTN: 72967A>G; Lys24323Glu; rs143241129

PubMed Link: 33109206

Variant Present in the following documents:

• 12920_2020_813_MOESM1_ESM.xlsx, sheet 4

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Genomic analysis identifies masqueraders of full-term cerebral palsy.

Annals Of Clinical And Translational Neurology

Takezawa, Yusuke Y; Kikuchi, Atsuo A; Haginoya, Kazuhiro K; Niihori, Tetsuya T; Numata-Uematsu, Yurika Y; Inui, Takehiko T; Yamamura-Suzuki, Saeko S; Miyabayashi, Takuya T; Anzai, Mai M; Suzuki-Muromoto, Sato S; Okubo, Yukimune Y; Endo, Wakaba W; Togashi, Noriko N; Kobayashi, Yasuko Y; Onuma, Akira A; Funayama, Ryo R; Shirota, Matsuyuki M; Nakayama, Keiko K; Aoki, Yoko Y; Kure, Shigeo S

Publication Date: 2018-05

Variant appearance in text: TTN: K24323E

PubMed Link: 29761117

Variant Present in the following documents:

• ACN3-5-538-s001.xlsx, sheet 1

View BVdb publication page