Publications:

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: ABCA3: 634C>A; L212M

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1

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Cryo-EM structures of the human surfactant lipid transporter ABCA3.

Science Advances

Xie, Tian T; Zhang, Zike Z; Yue, Jian J; Fang, Qi Q; Gong, Xin X

Publication Date: 2022-04-08

Variant appearance in text: ABCA3: L212M

PubMed Link: 35394827

Variant Present in the following documents:

• sciadv.abn3727_sm.pdf

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: ABCA3: L212M; rs139695699

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report.

Journal Of Medical Case Reports

Pachajoa, Harry H; Ruiz-Botero, Felipe F; Meza-Escobar, Luis Enrique LE; Villota-Delgado, Vania Alexandra VA; Ballesteros, Adriana A; Padilla, Ivan I; Duarte, Diana D

Publication Date: 2016-09-26

Variant appearance in text: ABCA3: L212M

PubMed Link: 27670912

Variant Present in the following documents:

• Main text
• 13256_2016_Article_1027.pdf

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: ABCA3: L212M

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.

Pediatrics

Wambach, Jennifer A JA; Wegner, Daniel J DJ; Depass, Kelcey K; Heins, Hillary H; Druley, Todd E TE; Mitra, Robi D RD; An, Ping P; Zhang, Qunyuan Q; Nogee, Lawrence M LM; Cole, F Sessions FS; Hamvas, Aaron A

Publication Date: 2012-12

Variant appearance in text: ABCA3: L212M

PubMed Link: 23166334

Variant Present in the following documents:

• Main text

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An intronic ABCA3 mutation that is responsible for respiratory disease.

Pediatric Research

Agrawal, Amit A; Hamvas, Aaron A; Cole, F Sessions FS; Wambach, Jennifer A JA; Wegner, Daniel D; Coghill, Carl C; Harrison, Keith K; Nogee, Lawrence M LM

Publication Date: 2012-06

Variant appearance in text: ABCA3: L212M

PubMed Link: 22337229

Variant Present in the following documents:

• Main text
• nihms447438.pdf

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Identification of early interstitial lung disease in an individual with genetic variations in ABCA3 and SFTPC.

Chest

Crossno, Peter F PF; Polosukhin, Vasiliy V VV; Blackwell, Timothy S TS; Johnson, Joyce E JE; Markin, Cheryl C; Moore, Paul E PE; Worrell, John A JA; Stahlman, Mildred T MT; Phillips, John A JA; Loyd, James E JE; Cogan, Joy D JD; Lawson, William E WE

Publication Date: 2010-04

Variant appearance in text: ABCA3: L212M

PubMed Link: 20371530

Variant Present in the following documents:

• Main text

View BVdb publication page

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