Publications:

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs28931585

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs28931585

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients.

Genes

Andolfo, Immacolata I; Martone, Stefania S; Rosato, Barbara Eleni BE; Marra, Roberta R; Gambale, Antonella A; Forni, Gian Luca GL; Pinto, Valeria V; Göransson, Magnus M; Papadopoulou, Vasiliki V; Gavillet, Mathilde M; Elalfy, Mohsen M; Panarelli, Antonella A; Tomaiuolo, Giovanna G; Iolascon, Achille A; Russo, Roberta R

Publication Date: 2021-06-23

Variant appearance in text: SLC4A1: 2608C>T; Arg870Trp; rs28931585

PubMed Link: 34201899

Variant Present in the following documents:

• Main text
• genes-12-00958.pdf

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A Grammastola spatulata mechanotoxin-4 (GsMTx4)-sensitive cation channel mediates increased cation permeability in human hereditary spherocytosis of multiple genetic etiologies.

Haematologica

Vandorpe, David H DH; Shmukler, Boris E BE; Ilboudo, Yann Y; Bhasin, Swati S; Thomas, Beena B; Rivera, Alicia A; Wohlgemuth, Jay G JG; Dlott, Jeffrey S JS; Snyder, L Michael LM; Sieff, Colin C; Bhasin, Manoj M; Lettre, Guillaume G; Brugnara, Carlo C; Alper, Seth L SL

Publication Date: 2021-10-01

Variant appearance in text: SLC4A1: R870W

PubMed Link: 34109777

Variant Present in the following documents:

• Main text
• 2021_278770_VANDORPE_SUPPL.pdf
• 1062759.pdf

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Molecular Simulations of Intact Anion Exchanger 1 Reveal Specific Domain and Lipid Interactions.

Biophysical Journal

De Vecchis, Dario D; Reithmeier, Reinhart A F RAF; Kalli, Antreas C AC

Publication Date: 2019-10-01

Variant appearance in text: AE1: R870W

PubMed Link: 31540709

Variant Present in the following documents:

• Main text
• mmc6.pdf
• main.pdf

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: SLC4A1: R870W

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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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: rs28931585

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SLC4A1: R870W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations.

Journal Of Molecular And Genetic Medicine : An International Journal Of Biomedical Research

Yenchitsomanus, Pa-Thai PT; Kittanakom, Saranya S; Rungroj, Nanyawan N; Cordat, Emmanuelle E; Reithmeier, Reinhart A F RA

Publication Date: 2005-11-16

Variant appearance in text: SLC4A1: R870W

PubMed Link: 19565014

Variant Present in the following documents:

• Main text
• jmgm-01-049.pdf

View BVdb publication page

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