Publications:

Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review.

Bmc Medical Genomics

Bae, Soyoung S; Yang, Aram A; Kim, Jinsup J; Lee, Hyun Ju HJ; Park, Hyun Kyung HK

Publication Date: 2021-12-20

Variant appearance in text: TTN: 60874T>C; Trp20292Arg

PubMed Link: 34930245

Variant Present in the following documents:

• 12920_2021_1148_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review.

Bmc Medical Genomics

Bae, Soyoung S; Yang, Aram A; Kim, Jinsup J; Lee, Hyun Ju HJ; Park, Hyun Kyung HK

Publication Date: 2021-12-20

Variant appearance in text: TTN: 60874T>C; Trp20292Arg

PubMed Link: 34930245

Variant Present in the following documents:

• 12920_2021_1148_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: TTN: W20292R

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page