Publications:

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: rs34077552

PubMed Link: 33851121

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: rs34077552

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: rs34077552

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

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Exome sequencing in one family with gastric- and rectal cancer.

Bmc Genetics

Thutkawkorapin, Jessada J; Picelli, Simone S; Kontham, Vinaykumar V; Liu, Tao T; Nilsson, Daniel D; Lindblom, Annika A

Publication Date: 2016-02-13

Variant appearance in text: rs34077552

PubMed Link: 26872740

Variant Present in the following documents:

• Main text
• 12863_2016_Article_351.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs34077552

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page