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: COL4A5: 3029A>G; Asn1010Ser

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants.

Kidney Medicine

Shulman, Cole C; Liang, Emerald E; Kamura, Misato M; Udwan, Khalil K; Yao, Tony T; Cattran, Daniel D; Reich, Heather H; Hladunewich, Michelle M; Pei, York Y; Savige, Judy J; Paterson, Andrew D AD; Suico, Mary Ann MA; Kai, Hirofumi H; Barua, Moumita M

Publication Date: 2021

Variant appearance in text: COL4A5: N1010S; rs151077921

PubMed Link: 33851121

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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[Gene mutation analysis of 19 Uighur families with aortic disease in Kashgar, China].

Nan Fang Yi Ke Da Xue Xue Bao = Journal Of Southern Medical University

Yu, Changjiang C; Li, Ying Y; Adilijang, Abuduresuli A; Yan, Jizhong J; Guzalnur, Arkin A; Abudushalamu, Abudula A; Aimirela, Yimamu Y; Fan, Ruixin R

Publication Date: 2020-11-30

Variant appearance in text: COL4A5: 3029A>G; N1010S

PubMed Link: 33243733

Variant Present in the following documents:

• Main text

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: COL4A5: 3029A>G; N1010S; rs151077921

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page