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: SCN4A: 4342C>T; Arg1448Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Kinetic Alterations in Resurgent Sodium Currents of Mutant Nav1.4 Channel in Two Patients Affected by Paramyotonia Congenita.

Biology

Lee, Ming-Jen MJ; Lin, Pi-Chen PC; Lin, Ming-Hong MH; Chiou, Hsin-Ying Clair HC; Wang, Kai K; Huang, Chiung-Wei CW

Publication Date: 2022-04-18

Variant appearance in text: SCN4A: R1448C

PubMed Link: 35453812

Variant Present in the following documents:

• Main text
• biology-11-00613.pdf

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Ventricular voltage-gated ion channels: Detection, characteristics, mechanisms, and drug safety evaluation.

Clinical And Translational Medicine

Chen, Lulan L; He, Yue Y; Wang, Xiangdong X; Ge, Junbo J; Li, Hua H

Publication Date: 2021-10

Variant appearance in text: SCN4A: R1448C

PubMed Link: 34709746

Variant Present in the following documents:

• Main text

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Cannabidiol Selectively Binds to the Voltage-Gated Sodium Channel Nav1.4 in Its Slow-Inactivated State and Inhibits Sodium Current.

Biomedicines

Huang, Chiung-Wei CW; Lin, Pi-Chen PC; Chen, Jian-Lin JL; Lee, Ming-Jen MJ

Publication Date: 2021-09-02

Variant appearance in text: SCN4A: Arg1448Cys

PubMed Link: 34572327

Variant Present in the following documents:

• biomedicines-09-01141.pdf

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Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?

Brain Sciences

Lupica, Antonino A; Di Stefano, Vincenzo V; Gagliardo, Andrea A; Iacono, Salvatore S; Pignolo, Antonia A; Ferlisi, Salvatore S; Torrente, Angelo A; Pagano, Sonia S; Gangitano, Massimo M; Brighina, Filippo F

Publication Date: 2021-03-21

Variant appearance in text: Nav1.4: Arg1448Cys

PubMed Link: 33801069

Variant Present in the following documents:

• brainsci-11-00398.pdf

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Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients.

Cells

Brenes, Oscar O; Barbieri, Raffaella R; Vásquez, Melissa M; Vindas-Smith, Rebeca R; Roig, Jeffrey J; Romero, Adarli A; Valle, Gerardo Del GD; Bermúdez-Guzmán, Luis L; Bertelli, Sara S; Pusch, Michael M; Morales, Fernando F

Publication Date: 2021-02-11

Variant appearance in text: Nav1.4: R1448C

PubMed Link: 33670307

Variant Present in the following documents:

• cells-10-00374.pdf

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Intratumoral heterogeneity as a predictive biomarker in anti-PD-(L)1 therapies for non-small cell lung cancer.

Molecular Cancer

Fang, Wenfeng W; Jin, Haoxuan H; Zhou, Huaqiang H; Hong, Shaodong S; Ma, Yuxiang Y; Zhang, Yaxiong Y; Su, Xiaofan X; Chen, Longyun L; Yang, Yunpeng Y; Xu, Shengqiang S; Liao, Yuwei Y; He, Yuming Y; Zhao, Hongyun H; Huang, Yan Y; Gao, Zhibo Z; Zhang, Li L

Publication Date: 2021-02-23

Variant appearance in text: SCN4A: 4342C>T; R1448C

PubMed Link: 33622313

Variant Present in the following documents:

• 12943_2021_1331_MOESM3_ESM.xlsx, sheet 8

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The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology

Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J

Publication Date: 2021-07

Variant appearance in text: SCN4A: 4342C>T; R1448*

PubMed Link: 33482222

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

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Changes in Resurgent Sodium Current Contribute to the Hyperexcitability of Muscles in Patients with Paramyotonia Congenita.

Biomedicines

Huang, Chiung-Wei CW; Lai, Hsing-Jung HJ; Lin, Pi-Chen PC; Lee, Ming-Jen MJ

Publication Date: 2021-01-08

Variant appearance in text: SCN4A: R1448C

PubMed Link: 33430134

Variant Present in the following documents:

• Main text
• biomedicines-09-00051.pdf

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Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.

Journal Of Neuromuscular Diseases

Desaphy, Jean-François JF; Altamura, Concetta C; Vicart, Savine S; Fontaine, Bertrand B

Publication Date: 2021

Variant appearance in text: SCN4A: R1448C

PubMed Link: 33325393

Variant Present in the following documents:

• Main text

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Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.

Journal Of Neurology

Vereb, Noemi N; Montagnese, Federica F; Gläser, Dieter D; Schoser, Benedikt B

Publication Date: 2021-05

Variant appearance in text: SCN4A: 4342C>T; Arg1448Cys

PubMed Link: 33263785

Variant Present in the following documents:

• Main text
• 415_2020_Article_10328.pdf

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Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.

Frontiers In Neurology

Maggi, Lorenzo L; Brugnoni, Raffaella R; Canioni, Eleonora E; Tonin, Paola P; Saletti, Veronica V; Sola, Patrizia P; Piccinelli, Stefano Cotti SC; Colleoni, Lara L; Ferrigno, Paola P; Pini, Antonella A; Masson, Riccardo R; Manganelli, Fiore F; Lietti, Daniele D; Vercelli, Liliana L; Ricci, Giulia G; Bruno, Claudio C; Tasca, Giorgio G; Pizzuti, Antonio A; Padovani, Alessandro A; Fusco, Carlo C; Pegoraro, Elena E; Ruggiero, Lucia L; Ravaglia, Sabrina S; Siciliano, Gabriele G; Morandi, Lucia L; Dubbioso, Raffaele R; Mongini, Tiziana T; Filosto, Massimiliano M; Tramacere, Irene I; Mantegazza, Renato R; Bernasconi, Pia P

Publication Date: 2020

Variant appearance in text: SCN4A: 4342C>T

PubMed Link: 32849172

Variant Present in the following documents:

• Main text
• fneur-11-00646.pdf

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Role of the voltage sensor module in Nav domain IV on fast inactivation in sodium channelopathies: The implication of closed-state inactivation.

Channels (Austin, Tex.)

Nakajima, Tadashi T; Kaneko, Yoshiaki Y; Dharmawan, Tommy T; Kurabayashi, Masahiko M

Publication Date: 2019-12

Variant appearance in text: SCN4A: R1448C

PubMed Link: 31357904

Variant Present in the following documents:

• Main text
• kchl-13-01-1649521.pdf

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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: SCN4A: 4342C>T; Arg1448Cys

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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Overlap of periodic paralysis and paramyotonia congenita caused by SCN4A gene mutations two family reports and literature review.

Channels (Austin, Tex.)

Huang, Shan S; Zhang, Wei W; Chang, Xueli X; Guo, Junhong J

Publication Date: 2019-12

Variant appearance in text: SCN4A: R1448C

PubMed Link: 30931713

Variant Present in the following documents:

• Main text

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Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.

Acta Cardiologica Sinica

Dehghani-Samani, Amir A; Madreseh-Ghahfarokhi, Samin S; Dehghani-Samani, Azam A

Publication Date: 2019-03

Variant appearance in text: SCN4A: R1448C

PubMed Link: 30930557

Variant Present in the following documents:

• Main text

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Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4.

Neurology

Elia, Nathaniel N; Palmio, Johanna J; Castañeda, Marisol Sampedro MS; Shieh, Perry B PB; Quinonez, Marbella M; Suominen, Tiina T; Hanna, Michael G MG; Männikkö, Roope R; Udd, Bjarne B; Cannon, Stephen C SC

Publication Date: 2019-03-26

Variant appearance in text: SCN4A: R1448C

PubMed Link: 30824560

Variant Present in the following documents:

• Main text
• NEUROLOGY2018928069.pdf

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NaV1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers.

Scientific Reports

Bayless-Edwards, Landon L; Winston, Vern V; Lehmann-Horn, Frank F; Arinze, Paula P; Groome, James R JR; Jurkat-Rott, Karin K

Publication Date: 2018-07-10

Variant appearance in text: SCN4A: R1448C

PubMed Link: 29991727

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gating currents.

The Journal Of General Physiology

Bezanilla, Francisco F

Publication Date: 2018-07-02

Variant appearance in text: Nav1.4: R1448C

PubMed Link: 29941430

Variant Present in the following documents:

• Main text
• JGP_201812090.pdf

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Flecainide-Induced Brugada Syndrome in a Patient With Skeletal Muscle Sodium Channelopathy: A Case Report With Critical Therapeutical Implications and Review of the Literature.

Frontiers In Neurology

Cavalli, Michele M; Fossati, Barbara B; Vitale, Raffaele R; Brigonzi, Elisa E; Ricigliano, Vito A G VAG; Saraceno, Lorenzo L; Cardani, Rosanna R; Pappone, Carlo C; Meola, Giovanni G

Publication Date: 2018

Variant appearance in text: SCN4A: R1448C

PubMed Link: 29899727

Variant Present in the following documents:

• Main text

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Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses.

Scientific Reports

Poulin, Hugo H; Gosselin-Badaroudine, Pascal P; Vicart, Savine S; Habbout, Karima K; Sternberg, Damien D; Giuliano, Serena S; Fontaine, Bertrand B; Bendahhou, Saïd S; Nicole, Sophie S; Chahine, Mohamed M

Publication Date: 2018-02-01

Variant appearance in text: SCN4A: R1448C

PubMed Link: 29391559

Variant Present in the following documents:

• Main text
• 41598_2018_Article_20468.pdf

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N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.

The Journal Of Physiology

Ke, Qing Q; Ye, Jia J; Tang, Siyang S; Wang, Jin J; Luo, Benyan B; Ji, Fang F; Zhang, Xu X; Yu, Ye Y; Cheng, Xiaoyang X; Li, Yuezhou Y

Publication Date: 2017-11-15

Variant appearance in text: SCN4A: R1448C

PubMed Link: 28940424

Variant Present in the following documents:

• Main text

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Sodium Channelopathies of Skeletal Muscle.

Handbook Of Experimental Pharmacology

Cannon, Stephen C SC

Publication Date: 2018

Variant appearance in text: SCN4A: R1448C

PubMed Link: 28939973

Variant Present in the following documents:

• Main text

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: SCN4A: 4342C>T; Arg1448Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: HYPP: R1448C

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

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Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.

Channels (Austin, Tex.)

Yang, Xinglong X; Jia, Hua H; An, Ran R; Xi, Jing J; Xu, Yanming Y

Publication Date: 2017-01-02

Variant appearance in text: SCN4A: R1448C

PubMed Link: 27415035

Variant Present in the following documents:

• Main text

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Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology

Maggi, Lorenzo L; Brugnoni, Raffaella R; Canioni, Eleonora E; Maccagnano, Elio E; Bernasconi, Pia P; Morandi, Lucia L

Publication Date: 2015-12

Variant appearance in text: SCN4A: R1448C

PubMed Link: 27199537

Variant Present in the following documents:

• Main text
• 1128-2460-34-109.pdf

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Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Frontiers In Pharmacology

Loussouarn, Gildas G; Sternberg, Damien D; Nicole, Sophie S; Marionneau, Céline C; Le Bouffant, Francoise F; Toumaniantz, Gilles G; Barc, Julien J; Malak, Olfat A OA; Fressart, Véronique V; Péréon, Yann Y; Baró, Isabelle I; Charpentier, Flavien F

Publication Date: 2015

Variant appearance in text: Nav1.4: R1448C

PubMed Link: 26834636

Variant Present in the following documents:

• Main text
• fphar-06-00314.pdf

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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: HYPP: R1448C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing.

Genomics Data

Li, Jinxin J; Huang, Qinghai Q; Ge, Liang L; Xu, Jing J; Shi, Xingjuan X; Xie, Wei W; Liu, Xiang X; Liu, Xiangdong X

Publication Date: 2015-06

Variant appearance in text: SCN4A: Arg1448Cys

PubMed Link: 26484179

Variant Present in the following documents:

• Main text
• main.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: SCN4A: R1448C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies.

European Journal Of Human Genetics : Ejhg

Bissay, Véronique V; Van Malderen, Sophie C H SC; Keymolen, Kathelijn K; Lissens, Willy W; Peeters, Uschi U; Daneels, Dorien D; Jansen, Anna C AC; Pappaert, Gudrun G; Brugada, Pedro P; De Keyser, Jacques J; Van Dooren, Sonia S

Publication Date: 2016-03

Variant appearance in text: SCN4A: Arg1448Cys; rs121908544

PubMed Link: 26036855

Variant Present in the following documents:

• Main text

View BVdb publication page

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Channelopathies of skeletal muscle excitability.

Comprehensive Physiology

Cannon, Stephen C SC

Publication Date: 2015-04

Variant appearance in text: SCN4A: R1448C

PubMed Link: 25880512

Variant Present in the following documents:

• Main text

View BVdb publication page

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A gating model for wildtype and R1448H Nav1.4 channels in paramyotonia.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology

Holzherr, Boris B; Lehmann-Horn, Frank F; Kuzmenkina, Elza E; Fan, Chunxiang C; Jurkat-Rott, Karin K

Publication Date: 2014-05

Variant appearance in text: Nav1.4: R1448C

PubMed Link: 24843232

Variant Present in the following documents:

• Main text

View BVdb publication page

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Biophysics, pathophysiology, and pharmacology of ion channel gating pores.

Frontiers In Pharmacology

Moreau, Adrien A; Gosselin-Badaroudine, Pascal P; Chahine, Mohamed M

Publication Date: 2014

Variant appearance in text: SCN4A: R1448C

PubMed Link: 24772081

Variant Present in the following documents:

• Main text
• fphar-05-00053.pdf

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Mechanisms of a human skeletal myotonia produced by mutation in the C-terminus of NaV1.4: is Ca2+ regulation defective?

Plos One

Biswas, Subrata S; DiSilvestre, Deborah A DA; Dong, Peihong P; Tomaselli, Gordon F GF

Publication Date: 2013

Variant appearance in text: SCN4A: R1448C

PubMed Link: 24324661

Variant Present in the following documents:

• pone.0081063.pdf

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Phenotypic heterogeneity in skeletal muscle sodium channelopathies: A case report and literature review.

Journal Of Pediatric Neurosciences

Saleem, Rashid R; Setty, Gururaj G; Khan, Arif A; Farrell, Duncan D; Hussain, Nahin N

Publication Date: 2013-05

Variant appearance in text: SCN4A: R1448C

PubMed Link: 24082935

Variant Present in the following documents:

• Main text

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Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals.

Journal Of Neurology

Charles, G G; Zheng, C C; Lehmann-Horn, F F; Jurkat-Rott, K K; Levitt, J J

Publication Date: 2013-10

Variant appearance in text: Nav1.4: R1448C

PubMed Link: 23884711

Variant Present in the following documents:

• Main text
• 415_2013_Article_7025.pdf

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Double trouble in a patient with myotonia.

Bmj Case Reports

Hehir, Michael K MK; Logigian, Eric E; Raja Rayan, Dipa L DL; Ciafaloni, Emma E

Publication Date: 2013-02-14

Variant appearance in text: SCN4A: R1448C

PubMed Link: 23417379

Variant Present in the following documents:

• Main text

View BVdb publication page

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Skeletal muscle na channel disorders.

Frontiers In Pharmacology

Simkin, Dina D; Bendahhou, Saïd S

Publication Date: 2011

Variant appearance in text: Nav1.4: R1448C

PubMed Link: 22016737

Variant Present in the following documents:

• Main text
• fphar-02-00063.pdf

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Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia.

Neurology

Francis, David G DG; Rybalchenko, Volodymyr V; Struyk, Arie A; Cannon, Stephen C SC

Publication Date: 2011-05-10

Variant appearance in text: SCN4A: R1448C

PubMed Link: 21490317

Variant Present in the following documents:

• Main text

View BVdb publication page

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State of the art in hereditary muscle channelopathies.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology

Jurkat-Rott, K K; Lehmann-Horn, F F

Publication Date: 2010-10

Variant appearance in text: SCN4A: R1448C

PubMed Link: 21314017

Variant Present in the following documents:

• 1128-2460-29-343.pdf

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Molecular determinants of state-dependent block of voltage-gated sodium channels by pilsicainide.

British Journal Of Pharmacology

Desaphy, J-F JF; Dipalma, A A; Costanza, T T; Bruno, C C; Lentini, G G; Franchini, C C; George, Al A; Conte Camerino, D D

Publication Date: 2010-07

Variant appearance in text: SCN4A: R1448C

PubMed Link: 20590641

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diagnostics and therapy of muscle channelopathies--Guidelines of the Ulm Muscle Centre.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology

Lehmann-Horn, F F; Jurkat-Rott, K K; Rüdel, R R; ,

Publication Date: 2008-12

Variant appearance in text: SCN4A: R1448C

PubMed Link: 19472919

Variant Present in the following documents:

• Main text

View BVdb publication page

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Temperature dependence of erythromelalgia mutation L858F in sodium channel Nav1.7.

Molecular Pain

Han, Chongyang C; Lampert, Angelika A; Rush, Anthony M AM; Dib-Hajj, Sulayman D SD; Wang, Xiaoliang X; Yang, Yong Y; Waxman, Stephen G SG

Publication Date: 2007-01-19

Variant appearance in text: Nav1.4: R1448C

PubMed Link: 17239250

Variant Present in the following documents:

• 1744-8069-3-3.pdf

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Single-channel properties of human NaV1.1 and mechanism of channel dysfunction in SCN1A-associated epilepsy.

The Journal Of General Physiology

Vanoye, Carlos G CG; Lossin, Christoph C; Rhodes, Thomas H TH; George, Alfred L AL

Publication Date: 2006-01

Variant appearance in text: SCN4A: R1448C

PubMed Link: 16380441

Variant Present in the following documents:

• Main text
• jgp1270001.pdf

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Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans.

The Journal Of Physiology

Bouhours, Magali M; Sternberg, Damien D; Davoine, Claire-Sophie CS; Ferrer, Xavier X; Willer, Jean Claude JC; Fontaine, Bertrand B; Tabti, Nacira N

Publication Date: 2004-02-01

Variant appearance in text: SkM1: R1448C

PubMed Link: 14617673

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.

Journal Of Korean Medical Science

Kim, Dae-Seong DS; Kim, Eun-Joo EJ; Jung, Dae-Soo DS; Park, Kyu-Hyun KH; Kim, In-Joo IJ; Kwak, Ki-Young KY; Kim, Cheol-Min CM; Ko, Hyun-Yoon HY

Publication Date: 2002-12

Variant appearance in text: SCN4A: Arg1448Cys

PubMed Link: 12483017

Variant Present in the following documents:

• 12483017.pdf

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Mexiletine block of disease-associated mutations in S6 segments of the human skeletal muscle Na(+) channel.

The Journal Of Physiology

Takahashi, M P MP; Cannon, S C SC

Publication Date: 2001-12-15

Variant appearance in text: SkM1: R1448C

PubMed Link: 11744749

Variant Present in the following documents:

• Main text

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Paramyotonia congenita mutations reveal different roles for segments S3 and S4 of domain D4 in hSkM1 sodium channel gating.

The Journal Of General Physiology

Ji, S S; George, A L AL; Horn, R R; Barchi, R L RL

Publication Date: 1996-02

Variant appearance in text: SkM1: R1448C

PubMed Link: 8833340

Variant Present in the following documents:

• jg1072183.pdf

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