Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: NF1: 3827G>C; Arg1276Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.

Cancers

Paterra, Rosina R; Bettinaglio, Paola P; Borghi, Arianna A; Mangano, Eleonora E; Tritto, Viviana V; Cesaretti, Claudia C; Schettino, Carla C; Bordoni, Roberta R; Santoro, Claudia C; Avignone, Sabrina S; Moscatelli, Marco M; Melone, Mariarosa Anna Beatrice MAB; Saletti, Veronica V; Piluso, Giulio G; Natacci, Federica F; Riva, Paola P; Eoli, Marica M

Publication Date: 2022-12-22

Variant appearance in text: NF1: 3827G>C; Arg1276Pro

PubMed Link: 36612057

Variant Present in the following documents:

• cancers-15-00059.pdf

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: NF1: 3827G>C; Arg1276Pro

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

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Neuronal hyperexcitability drives central and peripheral nervous system tumor progression in models of neurofibromatosis-1.

Nature Communications

Anastasaki, Corina C; Mo, Juan J; Chen, Ji-Kang JK; Chatterjee, Jit J; Pan, Yuan Y; Scheaffer, Suzanne M SM; Cobb, Olivia O; Monje, Michelle M; Le, Lu Q LQ; Gutmann, David H DH

Publication Date: 2022-05-19

Variant appearance in text: NF1: 3827G>C; R1276P

PubMed Link: 35589737

Variant Present in the following documents:

• 41467_2022_Article_30466.pdf

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: NF1: R1276P

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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Neurofibromin regulates metabolic rate via neuronal mechanisms in Drosophila.

Nature Communications

Botero, Valentina V; Stanhope, Bethany A BA; Brown, Elizabeth B EB; Grenci, Eliza C EC; Boto, Tamara T; Park, Scarlet J SJ; King, Lanikea B LB; Murphy, Keith R KR; Colodner, Kenneth J KJ; Walker, James A JA; Keene, Alex C AC; Ja, William W WW; Tomchik, Seth M SM

Publication Date: 2021-07-13

Variant appearance in text: NF1: R1276P

PubMed Link: 34257279

Variant Present in the following documents:

• Main text
• 41467_2021_Article_24505.pdf

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Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.

Molecular Genetics & Genomic Medicine

N Abdel-Aziz, Nahla N; Y El-Kamah, Ghada G; A Khairat, Rabab R; R Mohamed, Hanan H; Z Gad, Yehia Y; El-Ghor, Akmal M AM; Amr, Khalda S KS

Publication Date: 2021-12

Variant appearance in text: NF1: Arg1276pro

PubMed Link: 34080803

Variant Present in the following documents:

• Main text
• MGG3-9-e1631.pdf

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Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.

Molecular Genetics & Genomic Medicine

N Abdel-Aziz, Nahla N; Y El-Kamah, Ghada G; A Khairat, Rabab R; R Mohamed, Hanan H; Z Gad, Yehia Y; El-Ghor, Akmal M AM; Amr, Khalda S KS

Publication Date: 2021-06-03

Variant appearance in text: NF1: Arg1276pro

PubMed Link: 34080803

Variant Present in the following documents:

• Main text
• MGG3-9-e1631.pdf

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Developmental loss of neurofibromin across distributed neuronal circuits drives excessive grooming in Drosophila.

Plos Genetics

King, Lanikea B LB; Boto, Tamara T; Botero, Valentina V; Aviles, Ari M AM; Jomsky, Breanna M BM; Joseph, Chevara C; Walker, James A JA; Tomchik, Seth M SM

Publication Date: 2020-07

Variant appearance in text: NF1: R1276P

PubMed Link: 32697780

Variant Present in the following documents:

• Main text

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Brain tumors in Neurofibromatosis type 1.

Neuro-Oncology Advances

Costa, Amanda De Andrade AA; Gutmann, David H DH

Publication Date: 2019

Variant appearance in text: NF1: Arg1276Pro

PubMed Link: 32642668

Variant Present in the following documents:

• Main text
• vdz040.pdf

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: NF1: R1276P

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

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Pumping the brakes on RAS - negative regulators and death effectors of RAS.

Journal Of Cell Science

Harrell Stewart, Desmond R DR; Clark, Geoffrey J GJ

Publication Date: 2020-02-10

Variant appearance in text: NF1: R1276P

PubMed Link: 32041893

Variant Present in the following documents:

• Main text

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Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Cancers

Melloni, Giulia G; Eoli, Marica M; Cesaretti, Claudia C; Bianchessi, Donatella D; Ibba, Maria Cristina MC; Esposito, Silvia S; Scuvera, Giulietta G; Morcaldi, Guido G; Micheli, Roberto R; Piozzi, Elena E; Avignone, Sabrina S; Chiapparini, Luisa L; Pantaleoni, Chiara C; Natacci, Federica F; Finocchiaro, Gaetano G; Saletti, Veronica V

Publication Date: 2019-11-21

Variant appearance in text: NF1: 3827G>C; Arg1276Pro

PubMed Link: 31766501

Variant Present in the following documents:

• Main text
• cancers-11-01838.pdf

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Human Mutation

Koczkowska, Magdalena M; Callens, Tom T; Chen, Yunjia Y; Gomes, Alicia A; Hicks, Alesha D AD; Sharp, Angela A; Johns, Eric E; Uhas, Kim Armfield KA; Armstrong, Linlea L; Bosanko, Katherine Armstrong KA; Babovic-Vuksanovic, Dusica D; Baker, Laura L; Basel, Donald G DG; Bengala, Mario M; Bennett, James T JT; Chambers, Chelsea C; Clarkson, Lola K LK; Clementi, Maurizio M; Cortés, Fanny M FM; Cunningham, Mitch M; D'Agostino, M Daniela MD; Delatycki, Martin B MB; Digilio, Maria C MC; Dosa, Laura L; Esposito, Silvia S; Fox, Stephanie S; Freckmann, Mary-Louise ML; Fauth, Christine C; Giugliano, Teresa T; Giustini, Sandra S; Goetsch, Allison A; Goldberg, Yael Y; Greenwood, Robert S RS; Griffis, Cristin C; Gripp, Karen W KW; Gupta, Punita P; Haan, Eric E; Hachen, Rachel K RK; Haygarth, Tamara L TL; Hernández-Chico, Concepción C; Hodge, Katelyn K; Hopkin, Robert J RJ; Hudgins, Louanne L; Janssens, Sandra S; Keller, Kory K; Kelly-Mancuso, Geraldine G; Kochhar, Aaina A; Korf, Bruce R BR; Lewis, Andrea M AM; Liebelt, Jan J; Lichty, Angie A; Listernick, Robert H RH; Lyons, Michael J MJ; Maystadt, Isabelle I; Martinez Ojeda, Mayra M; McDougall, Carey C; McGregor, Lesley K LK; Melis, Daniela D; Mendelsohn, Nancy N; Nowaczyk, Malgorzata J M MJM; Ortenberg, June J; Panzer, Karin K; Pappas, John G JG; Pierpont, Mary Ella ME; Piluso, Giulio G; Pinna, Valentina V; Pivnick, Eniko K EK; Pond, Dinel A DA; Powell, Cynthia M CM; Rogers, Caleb C; Ruhrman Shahar, Noa N; Rutledge, S Lane SL; Saletti, Veronica V; Sandaradura, Sarah A SA; Santoro, Claudia C; Schatz, Ulrich A UA; Schreiber, Allison A; Scott, Daryl A DA; Sellars, Elizabeth A EA; Sheffer, Ruth R; Siqveland, Elizabeth E; Slopis, John M JM; Smith, Rosemarie R; Spalice, Alberto A; Stockton, David W DW; Streff, Haley H; Theos, Amy A; Tomlinson, Gail E GE; Tran, Grace G; Trapane, Pamela L PL; Trevisson, Eva E; Ullrich, Nicole J NJ; Van den Ende, Jenneke J; Schrier Vergano, Samantha A SA; Wallace, Stephanie E SE; Wangler, Michael F MF; Weaver, David D DD; Yohay, Kaleb H KH; Zackai, Elaine E; Zonana, Jonathan J; Zurcher, Vickie V; Claes, Kathleen B M KBM; Eoli, Marica M; Martin, Yolanda Y; Wimmer, Katharina K; De Luca, Alessandro A; Legius, Eric E; Messiaen, Ludwine M LM

Publication Date: 2020-01

Variant appearance in text: NF1: 3827G>C; Arg1276Pro

PubMed Link: 31595648

Variant Present in the following documents:

• Main text
• HUMU-41-299-s003.xlsx, sheet 1
• HUMU-41-299.pdf
• HUMU-41-299-s005.pdf

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Genetic and genomic alterations differentially dictate low-grade glioma growth through cancer stem cell-specific chemokine recruitment of T cells and microglia.

Neuro-Oncology

Guo, Xiaofan X; Pan, Yuan Y; Gutmann, David H DH

Publication Date: 2019-10-09

Variant appearance in text: NF1: 3827G>C

PubMed Link: 31111915

Variant Present in the following documents:

• Main text

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Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

Ebiomedicine

Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S

Publication Date: 2018-10

Variant appearance in text: rs137854556

PubMed Link: 30274822

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Human Genetics

Monies, Dorota D; Abouelhoda, Mohamed M; AlSayed, Moeenaldeen M; Alhassnan, Zuhair Z; Alotaibi, Maha M; Kayyali, Husam H; Al-Owain, Mohammed M; Shah, Ayaz A; Rahbeeni, Zuhair Z; Al-Muhaizea, Mohammad A MA; Alzaidan, Hamad I HI; Cupler, Edward E; Bohlega, Saeed S; Faqeih, Eissa E; Faden, Maha M; Alyounes, Banan B; Jaroudi, Dyala D; Goljan, Ewa E; Elbardisy, Hadeel H; Akilan, Asma A; Albar, Renad R; Aldhalaan, Hesham H; Gulab, Shamshad S; Chedrawi, Aziza A; Al Saud, Bandar K BK; Kurdi, Wesam W; Makhseed, Nawal N; Alqasim, Tahani T; El Khashab, Heba Y HY; Al-Mousa, Hamoud H; Alhashem, Amal A; Kanaan, Imaduddin I; Algoufi, Talal T; Alsaleem, Khalid K; Basha, Talal A TA; Al-Murshedi, Fathiya F; Khan, Sameena S; Al-Kindy, Adila A; Alnemer, Maha M; Al-Hajjar, Sami S; Alyamani, Suad S; Aldhekri, Hasan H; Al-Mehaidib, Ali A; Arnaout, Rand R; Dabbagh, Omar O; Shagrani, Mohammad M; Broering, Dieter D; Tulbah, Maha M; Alqassmi, Amal A; Almugbel, Maisoon M; AlQuaiz, Mohammed M; Alsaman, Abdulaziz A; Al-Thihli, Khalid K; Sulaiman, Raashda A RA; Al-Dekhail, Wajeeh W; Alsaegh, Abeer A; Bashiri, Fahad A FA; Qari, Alya A; Alhomadi, Suzan S; Alkuraya, Hisham H; Alsebayel, Mohammed M; Hamad, Muddathir H MH; Szonyi, Laszlo L; Abaalkhail, Faisal F; Al-Mayouf, Sulaiman M SM; Almojalli, Hamad H; Alqadi, Khalid S KS; Elsiesy, Hussien H; Shuaib, Taghreed M TM; Seidahmed, Mohammed Zain MZ; Abosoudah, Ibraheem I; Akleh, Hana H; AlGhonaium, Abdulaziz A; Alkharfy, Turki M TM; Al Mutairi, Fuad F; Eyaid, Wafa W; Alshanbary, Abdullah A; Sheikh, Farrukh R FR; Alsohaibani, Fahad I FI; Alsonbul, Abdullah A; Al Tala, Saeed S; Balkhy, Soher S; Bassiouni, Randa R; Alenizi, Ahmed S AS; Hussein, Maged H MH; Hassan, Saeed S; Khalil, Mohamed M; Tabarki, Brahim B; Alshahwan, Saad S; Oshi, Amira A; Sabr, Yasser Y; Alsaadoun, Saad S; Salih, Mustafa A MA; Mohamed, Sarar S; Sultana, Habiba H; Tamim, Abdullah A; El-Haj, Moayad M; Alshahrani, Saif S; Bubshait, Dalal K DK; Alfadhel, Majid M; Faquih, Tariq T; El-Kalioby, Mohamed M; Subhani, Shazia S; Shah, Zeeshan Z; Moghrabi, Nabil N; Meyer, Brian F BF; Alkuraya, Fowzan S FS

Publication Date: 2017-08

Variant appearance in text: rs137854556

PubMed Link: 28600779

Variant Present in the following documents:

• 439_2017_1821_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Ccl5 establishes an autocrine high-grade glioma growth regulatory circuit critical for mesenchymal glioblastoma survival.

Oncotarget

Pan, Yuan Y; Smithson, Laura J LJ; Ma, Yu Y; Hambardzumyan, Dolores D; Gutmann, David H DH

Publication Date: 2017-05-16

Variant appearance in text: NF1: R1276P

PubMed Link: 28380429

Variant Present in the following documents:

• Main text
• oncotarget-08-32977.pdf

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Synergy between loss of NF1 and overexpression of MYCN in neuroblastoma is mediated by the GAP-related domain.

Elife

He, Shuning S; Mansour, Marc R MR; Zimmerman, Mark W MW; Ki, Dong Hyuk DH; Layden, Hillary M HM; Akahane, Koshi K; Gjini, Evisa E; de Groh, Eric D ED; Perez-Atayde, Antonio R AR; Zhu, Shizhen S; Epstein, Jonathan A JA; Look, A Thomas AT

Publication Date: 2016-04-27

Variant appearance in text: NF1: R1276P

PubMed Link: 27130733

Variant Present in the following documents:

• Main text

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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: N/A

PubMed Link: 26659599

Variant Present in the following documents:

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Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.

The Journal Of Biological Chemistry

Hirata, Yasuko Y; Brems, Hilde H; Suzuki, Mayu M; Kanamori, Mitsuhiro M; Okada, Masahiro M; Morita, Rimpei R; Llano-Rivas, Isabel I; Ose, Toyoyuki T; Messiaen, Ludwine L; Legius, Eric E; Yoshimura, Akihiko A

Publication Date: 2016-02-12

Variant appearance in text: NF1: R1276P

PubMed Link: 26635368

Variant Present in the following documents:

• Main text

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Loss of neurofibromin Ras-GAP activity enhances the formation of cardiac blood islands in murine embryos.

Elife

Yzaguirre, Amanda D AD; Padmanabhan, Arun A; de Groh, Eric D ED; Engleka, Kurt A KA; Li, Jun J; Speck, Nancy A NA; Epstein, Jonathan A JA

Publication Date: 2015-10-13

Variant appearance in text: NF1: R1276P

PubMed Link: 26460546

Variant Present in the following documents:

• Main text
• elife-07780.pdf

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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: NF1: R1276P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Molecular Systems Biology

Kiel, Christina C; Serrano, Luis L

Publication Date: 2014-05-06

Variant appearance in text: NF1: R1276P

PubMed Link: 24803665

Variant Present in the following documents:

• MSB-10-5-727-s13.xls, sheet 1

View BVdb publication page

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Neurofibromin mediates FAK signaling in confining synapse growth at Drosophila neuromuscular junctions.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Tsai, Pei-I PI; Wang, Manyu M; Kao, Hsiu-Hua HH; Cheng, Ying-Ju YJ; Walker, James A JA; Chen, Ruey-Hwa RH; Chien, Cheng-Ting CT

Publication Date: 2012-11-21

Variant appearance in text: NF1: R1276P

PubMed Link: 23175848

Variant Present in the following documents:

• Main text

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Drosophila modeling of heritable neurodevelopmental disorders.

Current Opinion In Neurobiology

Gatto, Cheryl L CL; Broadie, Kendal K

Publication Date: 2011-12

Variant appearance in text: NF1: R1276P

PubMed Link: 21596554

Variant Present in the following documents:

• Main text

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Distinct functional domains of neurofibromatosis type 1 regulate immediate versus long-term memory formation.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Ho, Ivan Shun IS; Hannan, Frances F; Guo, Hui-Fu HF; Hakker, Inessa I; Zhong, Yi Y

Publication Date: 2007-06-20

Variant appearance in text: NF1: R1276P

PubMed Link: 17581973

Variant Present in the following documents:

• Main text

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Reduced growth of Drosophila neurofibromatosis 1 mutants reflects a non-cell-autonomous requirement for GTPase-Activating Protein activity in larval neurons.

Genes & Development

Walker, James A JA; Tchoudakova, Anna V AV; McKenney, Peter T PT; Brill, Suzanne S; Wu, Dongyun D; Cowley, Glenn S GS; Hariharan, Iswar K IK; Bernards, André A

Publication Date: 2006-12-01

Variant appearance in text: NF1: R1276P

PubMed Link: 17114577

Variant Present in the following documents:

• Main text

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Hyperactivation of p21ras and PI3K cooperate to alter murine and human neurofibromatosis type 1-haploinsufficient osteoclast functions.

The Journal Of Clinical Investigation

Yang, Feng-Chun FC; Chen, Shi S; Robling, Alexander G AG; Yu, Xijie X; Nebesio, Todd D TD; Yan, Jincheng J; Morgan, Trent T; Li, Xiaohong X; Yuan, Jin J; Hock, Janet J; Ingram, David A DA; Clapp, D Wade DW

Publication Date: 2006-11

Variant appearance in text: NF1: R1276P

PubMed Link: 17053831

Variant Present in the following documents:

• Main text

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Nf1+/- mast cells induce neurofibroma like phenotypes through secreted TGF-beta signaling.

Human Molecular Genetics

Yang, Feng-Chun FC; Chen, Shi S; Clegg, Travis T; Li, Xiaohong X; Morgan, Trent T; Estwick, Selina A SA; Yuan, Jin J; Khalaf, Waleed W; Burgin, Sarah S; Travers, Jeff J; Parada, Luis F LF; Ingram, David A DA; Clapp, D Wade DW

Publication Date: 2006-08-15

Variant appearance in text: NF1: R1276P

PubMed Link: 16835260

Variant Present in the following documents:

• Main text

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Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras.

Human Molecular Genetics

Hannan, Frances F; Ho, Ivan I; Tong, James Jiayuan JJ; Zhu, Yinghua Y; Nurnberg, Peter P; Zhong, Yi Y

Publication Date: 2006-04-01

Variant appearance in text: NF1: R1276P

PubMed Link: 16513807

Variant Present in the following documents:

• Main text

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The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.

Journal Of Korean Medical Science

Jeong, Seon-Yong SY; Park, Sang-Jin SJ; Kim, Hyon J HJ

Publication Date: 2006-02

Variant appearance in text: NF1: R1276P

PubMed Link: 16479075

Variant Present in the following documents:

• Main text
• jkms-21-107.pdf

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Neurofibromin regulates neural stem cell proliferation, survival, and astroglial differentiation in vitro and in vivo.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Dasgupta, Biplab B; Gutmann, David H DH

Publication Date: 2005-06-08

Variant appearance in text: NF1: R1276P

PubMed Link: 15944386

Variant Present in the following documents:

• Main text

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Loss of the nf1 tumor suppressor gene decreases fas antigen expression in myeloid cells.

The American Journal Of Pathology

Hiatt, Kelly K; Ingram, David A DA; Huddleston, Hannah H; Spandau, Dan F DF; Kapur, Reuben R; Clapp, D Wade DW

Publication Date: 2004-04

Variant appearance in text: NF1: R1276P

PubMed Link: 15039234

Variant Present in the following documents:

• Main text

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Neurofibromin-deficient Schwann cells secrete a potent migratory stimulus for Nf1+/- mast cells.

The Journal Of Clinical Investigation

Yang, Feng-Chun FC; Ingram, David A DA; Chen, Shi S; Hingtgen, Cynthia M CM; Ratner, Nancy N; Monk, Kelly R KR; Clegg, Travis T; White, Hilary H; Mead, Laura L; Wenning, Mary Jo MJ; Williams, David A DA; Kapur, Reuben R; Atkinson, Simon J SJ; Clapp, D Wade DW

Publication Date: 2003-12

Variant appearance in text: NF1: R1276P

PubMed Link: 14679180

Variant Present in the following documents:

• Main text

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Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

American Journal Of Human Genetics

Fahsold, R R; Hoffmeyer, S S; Mischung, C C; Gille, C C; Ehlers, C C; Kücükceylan, N N; Abdel-Nour, M M; Gewies, A A; Peters, H H; Kaufmann, D D; Buske, A A; Tinschert, S S; Nürnberg, P P

Publication Date: 2000-03

Variant appearance in text: NF1: R1276P

PubMed Link: 10712197

Variant Present in the following documents:

• Main text

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