Publications:

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Diagnosis of neonatal neurofibromatosis type 1: a case report and review of the literature.

Bmc Pediatrics

Zheng, Qiuying Q; Xia, Bei B; Zhao, Xiaoli X; Wang, Ruijie R; Xie, Fusui F; Pei, Nihui N; Tao, Hongwei H; Ding, Tingting T; Liu, Lei L

Publication Date: 2023-05-24

Variant appearance in text: NF1: L847P

PubMed Link: 37226143

Variant Present in the following documents:

• Main text
• 12887_2023_Article_4077.pdf

View BVdb publication page

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Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.

Cancers

Ognibene, Marzia M; Scala, Marcello M; Iacomino, Michele M; Schiavetti, Irene I; Madia, Francesca F; Traverso, Monica M; Guerrisi, Sara S; Di Duca, Marco M; Caroli, Francesco F; Baldassari, Simona S; Tappino, Barbara B; Romano, Ferruccio F; Uva, Paolo P; Vozzi, Diego D; Chelleri, Cristina C; Piatelli, Gianluca G; Diana, Maria Cristina MC; Zara, Federico F; Capra, Valeria V; Pavanello, Marco M; De Marco, Patrizia P

Publication Date: 2023-03-22

Variant appearance in text: NF1: 2540T>C; Leu847Pro

PubMed Link: 36980803

Variant Present in the following documents:

• cancers-15-01916.pdf

View BVdb publication page

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APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences

Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB

Publication Date: 2023-02-26

Variant appearance in text: NF1: 2540T>C

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

View BVdb publication page

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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: 2540T>C; Leu847Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: 2540T>C; Leu847Pro

PubMed Link: 36612057

Variant Present in the following documents:

• cancers-15-00059.pdf

View BVdb publication page

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Genomic patterns of malignant peripheral nerve sheath tumor (MPNST) evolution correlate with clinical outcome and are detectable in cell-free DNA.

Cancer Discovery

Cortes-Ciriano, Isidro I; Steele, Christopher D CD; Piculell, Katherine K; Al-Ibraheemi, Alyaa A; Eulo, Vanessa V; Bui, Marilyn M MM; Chatzipli, Aikaterini A; Dickson, Brendan C BC; Borcherding, Dana C DC; Feber, Andrew A; Galor, Alon A; Hart, Jesse J; Jones, Kevin B KB; Jordan, Justin T JT; Kim, Raymond H RH; Lindsay, Daniel D; Miller, Colin C; Nishida, Yoshihiro Y; Proszek, Paula Z PZ; Serrano, Jonathan J; Sundby, R Taylor RT; Szymanski, Jeffrey J JJ; Ullrich, Nicole J NJ; Viskochil, David D; Wang, Xia X; Snuderl, Matija M; Park, Peter J PJ; Flanagan, Adrienne M AM; Hirbe, Angela C AC; Pillay, Nischalan N; Miller, David T DT

Publication Date: 2023-01-04

Variant appearance in text: NF1: L847P

PubMed Link: 36598417

Variant Present in the following documents:

• cd-22-0786_supplementary_tables_s1_and_s2_suppst1.xlsx, sheet 1

View BVdb publication page

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Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Cancer Science

Usui, Yoshiaki Y; Iwasaki, Yusuke Y; Matsuo, Keitaro K; Endo, Mikiko M; Kamatani, Yoichiro Y; Hirata, Makoto M; Sugano, Kokichi K; Yoshida, Teruhiko T; Matsuda, Koichi K; Murakami, Yoshinori Y; Maeda, Yoshinobu Y; Nakagawa, Hidewaki H; Momozawa, Yukihide Y

Publication Date: 2022-11

Variant appearance in text: NF1: 2540T>C; Leu847Pro

PubMed Link: 36065483

Variant Present in the following documents:

• CAS-113-3972-s007.pdf

View BVdb publication page

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Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Nature Communications

Cong, Pei-Kuan PK; Bai, Wei-Yang WY; Li, Jin-Chen JC; Yang, Meng-Yuan MY; Khederzadeh, Saber S; Gai, Si-Rui SR; Li, Nan N; Liu, Yu-Heng YH; Yu, Shi-Hui SH; Zhao, Wei-Wei WW; Liu, Jun-Quan JQ; Sun, Yi Y; Zhu, Xiao-Wei XW; Zhao, Pian-Pian PP; Xia, Jiang-Wei JW; Guan, Peng-Lin PL; Qian, Yu Y; Tao, Jian-Guo JG; Xu, Lin L; Tian, Geng G; Wang, Ping-Yu PY; Xie, Shu-Yang SY; Qiu, Mo-Chang MC; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF

Publication Date: 2022-05-26

Variant appearance in text: NF1: 2540T>C; L847P; rs199474747

PubMed Link: 35618720

Variant Present in the following documents:

• 41467_2022_30526_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1.

Translational Vision Science & Technology

Flores Pimentel, Mariana M; Heath, Anna A; Wan, Michael J MJ; Hussein, Rowaida R; Leahy, Kate E KE; MacDonald, Heather H; Tavares, Erika E; VandenHoven, Cynthia C; MacNeill, Katelyn K; Kannu, Peter P; Parkin, Patricia C PC; Heon, Elise E; Reginald, Arun A; Vincent, Ajoy A

Publication Date: 2022-02-01

Variant appearance in text: NF1: 2540T>C; Leu847Pro

PubMed Link: 35119474

Variant Present in the following documents:

• Main text
• tvst-11-2-10.pdf

View BVdb publication page

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Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1.

Translational Vision Science & Technology

Flores Pimentel, Mariana M; Heath, Anna A; Wan, Michael J MJ; Hussein, Rowaida R; Leahy, Kate E KE; MacDonald, Heather H; Tavares, Erika E; VandenHoven, Cynthia C; MacNeill, Katelyn K; Kannu, Peter P; Parkin, Patricia C PC; Heon, Elise E; Reginald, Arun A; Vincent, Ajoy A

Publication Date: 2022-02-01

Variant appearance in text: NF1: 2540T>C; Leu847Pro

PubMed Link: 35119474

Variant Present in the following documents:

• Main text
• tvst-11-2-10.pdf

View BVdb publication page

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Survival and NF1 Analysis in a Cohort of Orthopedics Patients with Malignant Peripheral Nerve Sheath Tumors.

Sarcoma

Knewitz, Daniel K DK; Anderson, Colin J CJ; Presley, William T WT; Horodyski, MaryBeth M; Scarborough, Mark T MT; Wallace, Margaret R MR

Publication Date: 2021

Variant appearance in text: NF1: 2540T>C; Leu847Pro

PubMed Link: 34646065

Variant Present in the following documents:

• sarcoma2021-9386823.pdf

View BVdb publication page

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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.

Cancers

Scala, Marcello M; Schiavetti, Irene I; Madia, Francesca F; Chelleri, Cristina C; Piccolo, Gianluca G; Accogli, Andrea A; Riva, Antonella A; Salpietro, Vincenzo V; Bocciardi, Renata R; Morcaldi, Guido G; Di Duca, Marco M; Caroli, Francesco F; Verrico, Antonio A; Milanaccio, Claudia C; Viglizzo, Gianmaria G; Traverso, Monica M; Baldassari, Simona S; Scudieri, Paolo P; Iacomino, Michele M; Piatelli, Gianluca G; Minetti, Carlo C; Striano, Pasquale P; Garrè, Maria Luisa ML; De Marco, Patrizia P; Diana, Maria Cristina MC; Capra, Valeria V; Pavanello, Marco M; Zara, Federico F

Publication Date: 2021-04-14

Variant appearance in text: NF1: 2540T>C; Leu847Pro

PubMed Link: 33919865

Variant Present in the following documents:

• Main text

View BVdb publication page

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Conjunctival Melanoma: Update on Genetics, Epigenetics and Targeted Molecular and Immune-Based Therapies.

Clinical Ophthalmology (Auckland, N.Z.)

Gkiala, Anastasia A; Palioura, Sotiria S

Publication Date: 2020

Variant appearance in text: NF1: L847P

PubMed Link: 33116365

Variant Present in the following documents:

• Main text
• opth-14-3137.pdf

View BVdb publication page

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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: NF1: 2540T>C; Leu847Pro

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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Phenotypic heterogeneity of neurofibromatosis type 1 in a large international registry.

Jci Insight

Tabata, Mika M MM; Li, Shufeng S; Knight, Pamela P; Bakker, Annette A; Sarin, Kavita Y KY

Publication Date: 2020-08-20

Variant appearance in text: NF1: 2540T>C; Leu847Pro

PubMed Link: 32814709

Variant Present in the following documents:

• Main text
• jciinsight-5-136262.pdf

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: NF1: 2540T>C; L847P

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM9_ESM.xlsx, sheet 1
• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 6
• 41467_2020_16067_MOESM19_ESM.xlsx, sheet 1
• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 5
• 41467_2020_16067_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification.

International Journal Of Molecular Sciences

Accetturo, Matteo M; Bartolomeo, Nicola N; Stella, Alessandro A

Publication Date: 2020-01-22

Variant appearance in text: NF1: Leu847Pro

PubMed Link: 31979111

Variant Present in the following documents:

• Main text
• ijms-21-00721.pdf

View BVdb publication page

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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: 2540T>C; Leu847Pro

PubMed Link: 31766501

Variant Present in the following documents:

• Main text
• cancers-11-01838.pdf

View BVdb publication page

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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: NF1: 2540T>C; Leu847Pro

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: NF1: 2540T>C; Leu847Pro

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2018-10-04

Variant appearance in text: NF1: 2540T>C; Leu847Pro; rs199474747

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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NF1 mutations in conjunctival melanoma.

British Journal Of Cancer

Scholz, S L SL; Cosgarea, I I; Süßkind, D D; Murali, R R; Möller, I I; Reis, H H; Leonardelli, S S; Schilling, B B; Schimming, T T; Hadaschik, E E; Franklin, C C; Paschen, A A; Sucker, A A; Steuhl, K P KP; Schadendorf, D D; Westekemper, H H; Griewank, K G KG

Publication Date: 2018-05

Variant appearance in text: NF1: L847P

PubMed Link: 29559732

Variant Present in the following documents:

• Main text
• 41416_2018_Article_46.pdf

View BVdb publication page

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Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.

Hypertension (Dallas, Tex. : 1979)

Warejko, Jillian K JK; Schueler, Markus M; Vivante, Asaf A; Tan, Weizhen W; Daga, Ankana A; Lawson, Jennifer A JA; Braun, Daniela A DA; Shril, Shirlee S; Amann, Kassaundra K; Somers, Michael J G MJG; Rodig, Nancy M NM; Baum, Michelle A MA; Daouk, Ghaleb G; Traum, Avram Z AZ; Kim, Heung Bae HB; Vakili, Khashayar K; Porras, Diego D; Lock, James J; Rivkin, Michael J MJ; Chaudry, Gulraiz G; Smoot, Leslie B LB; Singh, Michael N MN; Smith, Edward R ER; Mane, Shrikant M SM; Lifton, Richard P RP; Stein, Deborah R DR; Ferguson, Michael A MA; Hildebrandt, Friedhelm F

Publication Date: 2018-04

Variant appearance in text: NF1: 2540T>C; L847P

PubMed Link: 29483232

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

American Journal Of Human Genetics

Koczkowska, Magdalena M; Chen, Yunjia Y; Callens, Tom T; Gomes, Alicia A; Sharp, Angela A; Johnson, Sherrell S; Hsiao, Meng-Chang MC; Chen, Zhenbin Z; Balasubramanian, Meena M; Barnett, Christopher P CP; Becker, Troy A TA; Ben-Shachar, Shay S; Bertola, Debora R DR; Blakeley, Jaishri O JO; Burkitt-Wright, Emma M M EMM; Callaway, Alison A; Crenshaw, Melissa M; Cunha, Karin S KS; Cunningham, Mitch M; D'Agostino, Maria D MD; Dahan, Karin K; De Luca, Alessandro A; Destrée, Anne A; Dhamija, Radhika R; Eoli, Marica M; Evans, D Gareth R DGR; Galvin-Parton, Patricia P; George-Abraham, Jaya K JK; Gripp, Karen W KW; Guevara-Campos, Jose J; Hanchard, Neil A NA; Hernández-Chico, Concepcion C; Immken, LaDonna L; Janssens, Sandra S; Jones, Kristi J KJ; Keena, Beth A BA; Kochhar, Aaina A; Liebelt, Jan J; Martir-Negron, Arelis A; Mahoney, Maurice J MJ; Maystadt, Isabelle I; McDougall, Carey C; McEntagart, Meriel M; Mendelsohn, Nancy N; Miller, David T DT; Mortier, Geert G; Morton, Jenny J; Pappas, John J; Plotkin, Scott R SR; Pond, Dinel D; Rosenbaum, Kenneth K; Rubin, Karol K; Russell, Laura L; Rutledge, Lane S LS; Saletti, Veronica V; Schonberg, Rhonda R; Schreiber, Allison A; Seidel, Meredith M; Siqveland, Elizabeth E; Stockton, David W DW; Trevisson, Eva E; Ullrich, Nicole J NJ; Upadhyaya, Meena M; van Minkelen, Rick R; Verhelst, Helene H; Wallace, Margaret R MR; Yap, Yoon-Sim YS; Zackai, Elaine E; Zonana, Jonathan J; Zurcher, Vickie V; Claes, Kathleen K; Martin, Yolanda Y; Korf, Bruce R BR; Legius, Eric E; Messiaen, Ludwine M LM

Publication Date: 2018-01-04

Variant appearance in text: NF1: 2540T>C; Leu847Pro

PubMed Link: 29290338

Variant Present in the following documents:

• Main text
• mmc3.pdf
• mmc1.pdf
• mmc2.xlsx, sheet 1
• main.pdf

View BVdb publication page

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RASopathy Gene Mutations in Melanoma.

The Journal Of Investigative Dermatology

Halaban, Ruth R; Krauthammer, Michael M

Publication Date: 2016-09

Variant appearance in text: NF1: L847P

PubMed Link: 27236105

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: NF1: L847P; rs199474747

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing of breast cancer, malignant peripheral nerve sheath tumor and neurofibroma from a patient with neurofibromatosis type 1.

Cancer Medicine

McPherson, John Richard JR; Ong, Choon-Kiat CK; Ng, Cedric Chuan-Young CC; Rajasegaran, Vikneswari V; Heng, Hong-Lee HL; Yu, Willie Shun-Shing WS; Tan, Benita Kiat-Tee BK; Madhukumar, Preetha P; Teo, Melissa Ching-Ching MC; Ngeow, Joanne J; Thike, Aye-Aye AA; Rozen, Steven George SG; Tan, Puay-Hoon PH; Lee, Ann Siew-Gek AS; Teh, Bin-Tean BT; Yap, Yoon-Sim YS

Publication Date: 2015-12

Variant appearance in text: NF1: L847P

PubMed Link: 26432421

Variant Present in the following documents:

• CAM4-4-1871-s005.xls, sheet 1

View BVdb publication page

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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: L847P

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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The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.

Genetic Testing And Molecular Biomarkers

Maruoka, Ryo R; Takenouchi, Toshiki T; Torii, Chiharu C; Shimizu, Atsushi A; Misu, Kumiko K; Higasa, Koichiro K; Matsuda, Fumihiko F; Ota, Arihito A; Tanito, Katsumi K; Kuramochi, Akira A; Arima, Yoshimi Y; Otsuka, Fujio F; Yoshida, Yuichi Y; Moriyama, Keiji K; Niimura, Michihito M; Saya, Hideyuki H; Kosaki, Kenjiro K

Publication Date: 2014-11

Variant appearance in text: NF1: 2540T>C; Leu847Pro

PubMed Link: 25325900

Variant Present in the following documents:

• Main text

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: L847P

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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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: L847P

PubMed Link: 16513807

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: L847P

PubMed Link: 10712197

Variant Present in the following documents:

• Main text

View BVdb publication page

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