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: 8737C>T; Pro2913Ser

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Characterization of tumor mutation burden, PD-L1 and DNA repair genes to assess relationship to immune checkpoint inhibitors response in metastatic renal cell carcinoma.

Journal For Immunotherapy Of Cancer

Labriola, Matthew Kyle MK; Zhu, Jason J; Gupta, Rajan T RT; McCall, Shannon S; Jackson, Jennifer J; Kong, Eric F EF; White, James R JR; Cerqueira, Gustavo G; Gerding, Kelly K; Simmons, John K JK; George, Daniel D; Zhang, Tian T

Publication Date: 2020-03

Variant appearance in text: KMT2D: P2913S

PubMed Link: 32221016

Variant Present in the following documents:

• jitc-2019-000319supp001.xlsx, sheet 1

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[Rosai-Dorfman disease: a clinicopathologic analysis and whole exome sequencing in 23 cases].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi

Fu, W J WJ; Du, J J; Lu, J J; Wang, L Z LZ; Yang, J M JM; He, M X MX; Hu, X X XX

Publication Date: 2019-08-14

Variant appearance in text: KMT2D: 8737C>T; P2913S

PubMed Link: 31495132

Variant Present in the following documents:

• Main text
• cjh-40-08-656.pdf

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