Publications:

Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.

Orphanet Journal Of Rare Diseases

Chi, Young-In YI; Stodola, Timothy J TJ; De Assuncao, Thiago M TM; Leverence, Elise N EN; Tripathi, Swarnendu S; Dsouza, Nikita R NR; Mathison, Angela J AJ; Basel, Donald G DG; Volkman, Brian F BF; Smith, Brian C BC; Lomberk, Gwen G; Zimmermann, Michael T MT; Urrutia, Raul R

Publication Date: 2021-02-05

Variant appearance in text: MLL3: P1195L

PubMed Link: 33546721

Variant Present in the following documents:

• Main text

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Genomic alterations in gastric cancers discovered via whole-exome sequencing.

Bmc Cancer

Zhang, Jie J; Qiu, Weiqing W; Liu, Hua H; Qian, Changlin C; Liu, Dujuan D; Wang, Hailong H; Hu, Ni N; Tang, Y Tom YT; Sun, Jianhua J; Shen, Zhiyong Z

Publication Date: 2018-12-19

Variant appearance in text: KMT2C: P1195L

PubMed Link: 30567531

Variant Present in the following documents:

• 12885_2018_5097_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page