Publications:

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: KMT2D: 3294G>T; Met1098Ile

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Genomics, Morphoproteomics, and Treatment Patterns of Patients with Alveolar Soft Part Sarcoma and Response to Multiple Experimental Therapies.

Molecular Cancer Therapeutics

Groisberg, Roman R; Roszik, Jason J; Conley, Anthony P AP; Lazar, Alexander J AJ; Portal, Daniella E DE; Hong, David S DS; Naing, Aung A; Herzog, Cynthia E CE; Somaiah, Neeta N; Zarzour, Maria A MA; Patel, Shreyaskumar S; Brown, Robert E RE; Subbiah, Vivek V

Publication Date: 2020-05

Variant appearance in text: KMT2D: M1098I

PubMed Link: 32127467

Variant Present in the following documents:

• Main text

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