ABCA4 c.2894A>G ;(p.N965S)

Variant ID: 1-94512499-T-C

NM_000350.2(ABCA4):c.2894A>G;(p.N965S)

This variant was identified in 96 publications

View GRCh38 version.




Publications:


Role of the ABCA4 Gene Expression in the Clearance of Toxic Vitamin A Derivatives in Human Hair Follicle Stem Cells and Keratinocytes.

International Journal Of Molecular Sciences
Ścieżyńska, Aneta A; Łuszczyński, Krzysztof K; Radziszewski, Marcin M; Komorowski, Michał M; Soszyńska, Marta M; Krześniak, Natalia N; Shevchenko, Kateryna K; Lutyńska, Anna A; Malejczyk, Jacek J
Publication Date: 2023-05-05

Variant appearance in text: ABCA4: Asn965Ser
PubMed Link: 37175983
Variant Present in the following documents:
  • ijms-24-08275.pdf
View BVdb publication page



Monitoring Lesion Area Progression in Stargardt Disease: A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence.

Translational Vision Science & Technology
Greenstein, Vivienne C VC; Castillejos, David S DS; Tsang, Stephen H SH; Lee, Winston W; Sparrow, Janet R JR; Allikmets, Rando R; Birch, David G DG; Hood, Donald C DC
Publication Date: 2023-05-01

Variant appearance in text: ABCA4: 2894A>G; Asn965Ser
PubMed Link: 37126335
Variant Present in the following documents:
  • Main text
  • tvst-12-5-2_s001.pdf
  • tvst-12-5-2.pdf
View BVdb publication page



Structural and Pathogenic Impacts of ABCA4 Variants in Retinal Degenerations-An In-Silico Study.

International Journal Of Molecular Sciences
Cevik, Senem S; Biswas, Subhasis B SB; Biswas-Fiss, Esther E EE
Publication Date: 2023-04-14

Variant appearance in text: ABCA4: N965S
PubMed Link: 37108442
Variant Present in the following documents:
  • Main text
  • ijms-24-07280.pdf
View BVdb publication page



Retinal-phospholipid Schiff-base conjugates and their interaction with ABCA4, the ABC transporter associated with Stargardt Disease.

The Journal Of Biological Chemistry
Xu, Tongzhou T; Molday, LaurieL L; Molday, RobertS R
Publication Date: 2023-03-15

Variant appearance in text: ABCA4: N965S
PubMed Link: 36931393
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Spectrum of congenital and inherited ocular disorders seen in a genetic clinic: Experience of a developing ocular genetic service.

Indian Journal Of Ophthalmology
Sahu, Animesh A; Kaur, Savleen S; Sukhija, Jaspreet J; Srivastava, Priyanka P; Kaur, Anupriya A
Publication Date: 2023-03

Variant appearance in text: ABCA4: 2894A>G
PubMed Link: 36872713
Variant Present in the following documents:
  • Main text
  • IJO-71-935.pdf
View BVdb publication page



Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Frontiers In Cell And Developmental Biology
Panneman, Daan M DM; Hitti-Malin, Rebekkah J RJ; Holtes, Lara K LK; de Bruijn, Suzanne E SE; Reurink, Janine J; Boonen, Erica G M EGM; Khan, Muhammad Imran MI; Ali, Manir M; Andréasson, Sten S; De Baere, Elfride E; Banfi, Sandro S; Bauwens, Miriam M; Ben-Yosef, Tamar T; Bocquet, Béatrice B; De Bruyne, Marieke M; de la Cerda, Berta B; Coppieters, Frauke F; Farinelli, Pietro P; Guignard, Thomas T; Inglehearn, Chris F CF; Karali, Marianthi M; Kjellström, Ulrika U; Koenekoop, Robert R; de Koning, Bart B; Leroy, Bart P BP; McKibbin, Martin M; Meunier, Isabelle I; Nikopoulos, Konstantinos K; Nishiguchi, Koji M KM; Poulter, James A JA; Rivolta, Carlo C; Rodríguez de la Rúa, Enrique E; Saunders, Patrick P; Simonelli, Francesca F; Tatour, Yasmin Y; Testa, Francesco F; Thiadens, Alberta A H J AAHJ; Toomes, Carmel C; Tracewska, Anna M AM; Tran, Hoai Viet HV; Ushida, Hiroaki H; Vaclavik, Veronika V; Verhoeven, Virginie J M VJM; van de Vorst, Maartje M; Gilissen, Christian C; Hoischen, Alexander A; Cremers, Frans P M FPM; Roosing, Susanne S
Publication Date: 2023

Variant appearance in text: ABCA4: 2894A>G
PubMed Link: 36819107
Variant Present in the following documents:
  • Table4.xlsx, sheet 1
View BVdb publication page



De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Investigative Ophthalmology & Visual Science
Li, Wei W; He, Xiang-Dong XD; Yang, Zheng-Tao ZT; Han, Dong-Ming DM; Sun, Yan Y; Chen, Yan-Xian YX; Han, Xiao-Tong XT; Guo, Si-Cheng SC; Ma, Yu-Ting YT; Jin, Xin X; Yang, Huan-Ming HM; Gao, Ya Y; Wang, Zhuo-Shi ZS; Li, Jian-Kang JK; He, Wei W
Publication Date: 2023-02-01

Variant appearance in text: ABCA4: 2894A>G; N965S; rs201471607
PubMed Link: 36729443
Variant Present in the following documents:
  • iovs-64-2-5_s003.xlsx, sheet 1
View BVdb publication page



Functional characterization of ABCA4 genetic variants related to Stargardt disease.

Scientific Reports
Kim, Bo Min BM; Song, Hyo Sook HS; Kim, Jin-Young JY; Kwon, Eun Young EY; Ha, Seung Yeon SY; Kim, Minsuk M; Choi, Ji Ha JH
Publication Date: 2022-12-24

Variant appearance in text: ABCA4: Asn965Ser
PubMed Link: 36566289
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_26912.pdf
View BVdb publication page



Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Scientific Reports
Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S
Publication Date: 2022-12-02

Variant appearance in text: ABCA4: Asn965Ser
PubMed Link: 36460718
Variant Present in the following documents:
  • 41598_2022_24636_MOESM2_ESM.xlsx, sheet 2
  • 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A five-year follow-up of <i>ABCA4</i> carriers showing deterioration of retinal function and increased structural changes.

Molecular Vision
Kjellström, Ulrika U; Andréasson, Sten S
Publication Date: 2022

Variant appearance in text: ABCA4: 2894A>G
PubMed Link: 36338671
Variant Present in the following documents:
  • Main text
  • mv-v28-300.pdf
View BVdb publication page



Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotyping.

Molecular Vision
Gupta, Priya R PR; Kheir, Wajiha W; Peng, Bo B; Duan, Jie J; Chiang, John P-W JP; Iannaccone, Alessandro A
Publication Date: 2022

Variant appearance in text: ABCA4: 2894A>G
PubMed Link: 36284670
Variant Present in the following documents:
  • Main text
  • mv-v28-203.pdf
View BVdb publication page



Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence.

Ophthalmology Science
Heath Jeffery, Rachael C RC; Thompson, Jennifer A JA; Lo, Johnny J; Lamey, Tina M TM; McLaren, Terri L TL; McAllister, Ian L IL; Mackey, David A DA; Constable, Ian J IJ; De Roach, John N JN; Chen, Fred K FK
Publication Date: 2021-03

Variant appearance in text: ABCA4: 2894A>G
PubMed Link: 36246008
Variant Present in the following documents:
  • mmc3.pdf
View BVdb publication page



Identification of heritable rare variants associated with early-stage lung adenocarcinoma risk.

Translational Lung Cancer Research
Fu, Rui R; Zhang, Jia-Tao JT; Chen, Rong-Rong RR; Li, Hong H; Tai, Zai-Xian ZX; Lin, Hao-Xiang HX; Su, Jian J; Chu, Xiang-Peng XP; Zhang, Chao C; Qiu, Zhen-Bin ZB; Chen, Zi-Hao ZH; Tang, Wen-Fang WF; Dong, Song S; Yang, Xue-Ning XN; Zhang, Guo-Qing GQ; Zhao, Guo-Ping GP; Wu, Yi-Long YL; Zhong, Wen-Zhao WZ
Publication Date: 2022-04

Variant appearance in text: rs201471607
PubMed Link: 35529798
Variant Present in the following documents:
  • Main text
  • tlcr-11-04-509.pdf
View BVdb publication page



Rare missense mutations in ABCA7 might increase Alzheimer's disease risk by plasma membrane exclusion.

Acta Neuropathologica Communications
Bossaerts, Liene L; Hendrickx Van de Craen, Elisabeth E; Cacace, Rita R; Asselbergh, Bob B; Van Broeckhoven, Christine C
Publication Date: 2022-03-31

Variant appearance in text: ABCA4: Asn965Ser
PubMed Link: 35361255
Variant Present in the following documents:
  • 40478_2022_Article_1346.pdf
View BVdb publication page



SIBLING CONCORDANCE IN SYMPTOM ONSET AND ATROPHY GROWTH RATES IN STARGARDT DISEASE USING ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE.

Retina (Philadelphia, Pa.)
Heath Jeffery, Rachael C RC; Thompson, Jennifer A JA; Lo, Johnny J; Lamey, Tina M TM; McLaren, Terri L TL; De Roach, John N JN; Azamanov, Dimitar N DN; McAllister, Ian L IL; Constable, Ian J IJ; Chen, Fred K FK
Publication Date: 2022-08-01

Variant appearance in text: ABCA4: Asn965Ser
PubMed Link: 35344533
Variant Present in the following documents:
  • retina-42-1545.pdf
View BVdb publication page



Evaluation of Local Rod and Cone Function in Stargardt Disease.

Investigative Ophthalmology & Visual Science
Stingl, Krunoslav K; Hoyng, Carel C; Kempf, Melanie M; Kohl, Susanne S; Jung, Ronja R; Righetti, Giulia G; Kühlewein, Laura L; Pohl, Lisa L; Kortüm, Friederike F; Kelbsch, Carina C; Wilhelm, Barbara B; Peters, Tobias T; Stingl, Katarina K; ,
Publication Date: 2022-03-02

Variant appearance in text: ABCA4: 2894A>G
PubMed Link: 35262734
Variant Present in the following documents:
  • Main text
  • iovs-63-3-6.pdf
View BVdb publication page



The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems-A Systematic Review.

Frontiers In Genetics
Piotter, Elena E; McClements, Michelle E ME; MacLaren, Robert E RE
Publication Date: 2021

Variant appearance in text: ABCA4: 2894A>G
PubMed Link: 35154257
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Investigative Ophthalmology & Visual Science
Del Pozo-Valero, Marta M; Riveiro-Alvarez, Rosa R; Martin-Merida, Inmaculada I; Blanco-Kelly, Fiona F; Swafiri, Saoud S; Lorda-Sanchez, Isabel I; Trujillo-Tiebas, Maria José MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Corton, Marta M; Avila-Fernandez, Almudena A; Ayuso, Carmen C
Publication Date: 2022-02-01

Variant appearance in text: ABCA4: 2894A>G
PubMed Link: 35119454
Variant Present in the following documents:
  • iovs-63-2-11_s003.pdf
View BVdb publication page



Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Investigative Ophthalmology & Visual Science
Del Pozo-Valero, Marta M; Riveiro-Alvarez, Rosa R; Martin-Merida, Inmaculada I; Blanco-Kelly, Fiona F; Swafiri, Saoud S; Lorda-Sanchez, Isabel I; Trujillo-Tiebas, Maria José MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Corton, Marta M; Avila-Fernandez, Almudena A; Ayuso, Carmen C
Publication Date: 2022-02-01

Variant appearance in text: ABCA4: 2894A>G
PubMed Link: 35119454
Variant Present in the following documents:
  • iovs-63-2-11_s003.pdf
View BVdb publication page



The Role of Inflammation in Retinal Neurodegeneration and Degenerative Diseases.

International Journal Of Molecular Sciences
Kaur, Geetika G; Singh, Nikhlesh K NK
Publication Date: 2021-12-30

Variant appearance in text: ABCA4: N965S
PubMed Link: 35008812
Variant Present in the following documents:
  • ijms-23-00386.pdf
View BVdb publication page



The Role of Inflammation in Retinal Neurodegeneration and Degenerative Diseases.

International Journal Of Molecular Sciences
Kaur, Geetika G; Singh, Nikhlesh K NK
Publication Date: 2021-12-30

Variant appearance in text: ABCA4: N965S
PubMed Link: 35008812
Variant Present in the following documents:
  • ijms-23-00386.pdf
View BVdb publication page



A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes.

Jci Insight
Lee, Winston W; Zernant, Jana J; Su, Pei-Yin PY; Nagasaki, Takayuki T; Tsang, Stephen H SH; Allikmets, Rando R
Publication Date: 2022-01-25

Variant appearance in text: ABCA4: Asn965Ser
PubMed Link: 34874912
Variant Present in the following documents:
  • jciinsight-7-156154.pdf
  • jciinsight-7-156154-s174.xlsx, sheet 1
View BVdb publication page



Therapy Approaches for Stargardt Disease.

Biomolecules
Piotter, Elena E; McClements, Michelle E ME; MacLaren, Robert E RE
Publication Date: 2021-08-09

Variant appearance in text: STGD1: Asn965Ser
PubMed Link: 34439845
Variant Present in the following documents:
  • Main text
  • biomolecules-11-01179.pdf
View BVdb publication page



A phase I clinical trial of human embryonic stem cell-derived retinal pigment epithelial cells for early-stage Stargardt macular degeneration: 5-years' follow-up.

Cell Proliferation
Li, Shi-Ying SY; Liu, Yong Y; Wang, Lei L; Wang, Fang F; Zhao, Tong-Tao TT; Li, Qi-You QY; Xu, Hai-Wei HW; Meng, Xiao-Hong XH; Hao, Jie J; Zhou, Qi Q; Wang, Liu L; Yin, Zheng-Qin ZQ
Publication Date: 2021-09

Variant appearance in text: STGD1: 2894A>G
PubMed Link: 34347352
Variant Present in the following documents:
  • Main text
  • CPR-54-e13100.pdf
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: ABCA4: 2894A>G; Asn965Ser; rs201471607
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease.

Bioscience Reports
Qu, Ling-Hui LH; Jin, Xin X; Zeng, Chao C; Zhou, Nian-Gou NG; Liu, Yan-Hong YH; Lin, Ye Y
Publication Date: 2021-06-25

Variant appearance in text: ABCA4: N965S
PubMed Link: 33988224
Variant Present in the following documents:
  • bsr-41-bsr20203497.pdf
View BVdb publication page



Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.

Frontiers In Genetics
Mena, Marcela D MD; Moresco, Angélica A AA; Vidal, Sofía H SH; Aguilar-Cortes, Diana D; Obregon, María G MG; Fandiño, Adriana C AC; Sendoya, Juan M JM; Llera, Andrea S AS; Podhajcer, Osvaldo L OL
Publication Date: 2021

Variant appearance in text: ABCA4: Asn965Ser
PubMed Link: 33841504
Variant Present in the following documents:
  • Main text
  • Data_Sheet_2.xlsx, sheet 2
  • fgene-12-646058.pdf
View BVdb publication page



Identification of Four Novel Variants and Determination of Genotype-Phenotype Correlations for ABCA4 Variants Associated With Inherited Retinal Degenerations.

Frontiers In Cell And Developmental Biology
Zhu, Qing Q; Rui, Xue X; Li, Ya Y; You, Ya Y; Sheng, Xun-Lun XL; Lei, Bo B
Publication Date: 2021

Variant appearance in text: STGD1: N965S
PubMed Link: 33732702
Variant Present in the following documents:
  • Main text
  • fcell-09-634843.pdf
View BVdb publication page



Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

Bmc Medical Genomics
Ma, Dae Joong DJ; Lee, Hyun-Seob HS; Kim, Kwangsoo K; Choi, Seongmin S; Jang, Insoon I; Cho, Seo-Ho SH; Yoon, Chang Ki CK; Lee, Eun Kyoung EK; Yu, Hyeong Gon HG
Publication Date: 2021-03-10

Variant appearance in text: ABCA4: N965S
PubMed Link: 33691693
Variant Present in the following documents:
  • 12920_2021_874_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.

Npj Genomic Medicine
Chen, Ta-Ching TC; Huang, Ding-Siang DS; Lin, Chao-Wen CW; Yang, Chang-Hao CH; Yang, Chung-May CM; Wang, Victoria Y VY; Lin, Jou-Wei JW; Luo, Allen Chilun AC; Hu, Fung-Rong FR; Chen, Pei-Lung PL
Publication Date: 2021-02-19

Variant appearance in text: ABCA4: 2894A>G; Asn965Ser
PubMed Link: 33608557
Variant Present in the following documents:
  • 41525_2021_180_MOESM2_ESM.xlsx, sheet 1
  • 41525_2021_180_MOESM1_ESM.pdf
View BVdb publication page



Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence.

Translational Vision Science & Technology
Jauregui, Ruben R; Nuzbrokh, Yan Y; Su, Pei-Yin PY; Zernant, Jana J; Allikmets, Rando R; Tsang, Stephen H SH; Sparrow, Janet R JR
Publication Date: 2021-01

Variant appearance in text: ABCA4: 2894A>G; N965S
PubMed Link: 33505770
Variant Present in the following documents:
  • tvst-10-1-3_s002.pdf
View BVdb publication page



Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration.

International Journal Of Molecular Sciences
Garces, Fabian A FA; Scortecci, Jessica F JF; Molday, Robert S RS
Publication Date: 2020-12-27

Variant appearance in text: ABCA4: N965S
PubMed Link: 33375396
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genotypes Predispose Phenotypes-Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies.

Genes
Sung, Yu-Chi YC; Yang, Chang-Hao CH; Yang, Chung-May CM; Lin, Chao-Wen CW; Huang, Ding-Siang DS; Huang, Yu-Shu YS; Hu, Fung-Rong FR; Chen, Pei-Lung PL; Chen, Ta-Ching TC
Publication Date: 2020-11-27

Variant appearance in text: STGD1: 2894A>G
PubMed Link: 33261146
Variant Present in the following documents:
  • Main text
  • genes-11-01421.pdf
View BVdb publication page



Thinner temporal peripapillary retinal nerve fibre layer in Stargardt disease detected by optical coherence tomography.

Graefe'S Archive For Clinical And Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie
Reich, Michael M; Lübke, Jan J; Joachimsen, Lutz L; Stifter, Julia J; Küchlin, Sebastian S; Böhringer, Daniel D; Lange, Clemens C; Lagrèze, Wolf A WA
Publication Date: 2021-06

Variant appearance in text: STGD: 2894A>G
PubMed Link: 33185728
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel variants of ABCA4 in Han Chinese families with Stargardt disease.

Bmc Medical Genetics
Hu, Fang-Yuan FY; Gao, Feng-Juan FJ; Li, Jian-Kang JK; Xu, Ping P; Wang, Dan-Dan DD; Zhang, Sheng-Hai SH; Wu, Ji-Hong JH
Publication Date: 2020-10-31

Variant appearance in text: ABCA4: Asn965Ser
PubMed Link: 33129279
Variant Present in the following documents:
  • Main text
  • 12881_2020_1152_MOESM2_ESM.xls, sheet 1
  • 12881_2020_Article_1152.pdf
View BVdb publication page



A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R
Publication Date: 2021-01

Variant appearance in text: ABCA4: N965S
PubMed Link: 32884132
Variant Present in the following documents:
  • nihms-1630822.pdf
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page



Functional analysis and classification of homozygous and hypomorphic ABCA4 variants associated with Stargardt macular degeneration.

Human Mutation
Curtis, Susan B SB; Molday, Laurie L LL; Garces, Fabian A FA; Molday, Robert S RS
Publication Date: 2020-11

Variant appearance in text: ABCA4: 2894A>G
PubMed Link: 32845050
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: ABCA4: 2894A>G; Asn965Ser
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
  • aba1773_Data_file_S1.xlsx, sheet 5
  • aba1773_Data_file_S1.xlsx, sheet 3
  • aba1773_Data_file_S1.xlsx, sheet 4
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: ABCA4: 2894A>G; Asn965Ser; rs201471607
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Progress In Retinal And Eye Research
Cremers, Frans P M FPM; Lee, Winston W; Collin, Rob W J RWJ; Allikmets, Rando R
Publication Date: 2020-11

Variant appearance in text: ABCA4: 2894A>G
PubMed Link: 32278709
Variant Present in the following documents:
  • Main text
View BVdb publication page



Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants.

Genes
Toulis, Vasileios V; Cortés-González, Vianney V; Castro-Miró, Marta de M; Sallum, Juliana Ferraz JF; Català-Mora, Jaume J; Villanueva-Mendoza, Cristina C; Ciccioli, Marcela M; Gonzàlez-Duarte, Roser R; Valero, Rebeca R; Marfany, Gemma G
Publication Date: 2020-03-31

Variant appearance in text: ABCA4: 2894A>G; Asn965Ser
PubMed Link: 32244552
Variant Present in the following documents:
  • Main text
  • genes-11-00378.pdf
View BVdb publication page



Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans.

Molecular Vision
Joo, Kwangsic K; Seong, Moon-Woo MW; Park, Kyu Hyung KH; Park, Sung Sup SS; Woo, Se Joon SJ
Publication Date: 2019

Variant appearance in text: STGD: 2894A>G
PubMed Link: 31814693
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterisation of vascular changes in different stages of Stargardt disease using double swept-source optical coherence tomography angiography.

Bmj Open Ophthalmology
Reich, Michael M; Glatz, Andreas A; Cakir, Bertan B; Böhringer, Daniel D; Lang, Stefan S; Küchlin, Sebastian S; Joachimsen, Lutz L; Lagreze, Wolf W; Agostini, Hansjuergen T HT; Lange, Clemens C
Publication Date: 2019

Variant appearance in text: STGD: 2894A>G
PubMed Link: 31799409
Variant Present in the following documents:
  • Main text
  • bmjophth-2019-000318.pdf
View BVdb publication page



Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.

Genes
Tracewska, Anna M AM; Kocyła-Karczmarewicz, Beata B; Rafalska, Agnieszka A; Murawska, Joanna J; Jakubaszko-Jablonska, Joanna J; Rydzanicz, Małgorzata M; Stawiński, Piotr P; Ciara, Elżbieta E; Khan, Muhammad Imran MI; Henkes, Arjen A; Hoischen, Alexander A; Gilissen, Christian C; van de Vorst, Maartje M; Cremers, Frans P M FPM; Płoski, Rafał R; Chrzanowska, Krystyna H KH
Publication Date: 2019-11-21

Variant appearance in text: STGD: 2894A>G
PubMed Link: 31766579
Variant Present in the following documents:
  • Main text
View BVdb publication page



ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants.

Frontiers In Genetics
Hu, Fang-Yuan FY; Li, Jian-Kang JK; Gao, Feng-Juan FJ; Qi, Yu-He YH; Xu, Ping P; Zhang, Yong-Jin YJ; Wang, Dan-Dan DD; Wang, Lu-Sheng LS; Li, Wei W; Wang, Min M; Chen, Fang F; Shen, Si-Mai SM; Xu, Ge-Zhi GZ; Zhang, Sheng-Hai SH; Chang, Qing Q; Wu, Ji-Hong JH
Publication Date: 2019

Variant appearance in text: STGD1: 2894A>G
PubMed Link: 31543898
Variant Present in the following documents:
  • Main text
  • fgene-10-00773.pdf
  • Table_2.xls, sheet 1
  • Table_3.xls, sheet 1
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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: ABCA4: 2894A>G; Asn965Ser
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
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An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.

Translational Vision Science & Technology
Wang, Panfeng P; Li, Shiqiang S; Sun, Wenming W; Xiao, Xueshan X; Jia, Xiaoyun X; Liu, Mengchu M; Xu, Lieqiang L; Long, Yuxi Y; Zhang, Qingjiong Q
Publication Date: 2019-03

Variant appearance in text: ABCA4: Asn965Ser
PubMed Link: 31106028
Variant Present in the following documents:
  • tvst-08-02-12_s02.xlsx, sheet 1
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