Publications:

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: MYBPC3: 2737+12C>T; rs3729936

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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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: MYBPC3: 2737+12C>T

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Revisiting the morbid genome of Mendelian disorders.

Genome Biology

Abouelhoda, Mohamed M; Faquih, Tariq T; El-Kalioby, Mohamed M; Alkuraya, Fowzan S FS

Publication Date: 2016-11-24

Variant appearance in text: MYBPC3: 2737+12C>T

PubMed Link: 27884173

Variant Present in the following documents:

• 13059_2016_1102_MOESM5_ESM.pdf
• 13059_2016_1102_MOESM1_ESM.pdf

View BVdb publication page

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Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

Journal Of Cardiovascular Translational Research

Kassem, Heba Sh HSh; Azer, Remon S RS; Saber-Ayad, Maha M; Ayad, Maha S MS; Moharem-Elgamal, Sarah S; Magdy, Gehan G; Elguindy, Ahmed A; Cecchi, Franco F; Olivotto, Iacopo I; Yacoub, Magdi H MH

Publication Date: 2013-02

Variant appearance in text: MYBPC3: 2737+12C>T; rs3729936

PubMed Link: 23233322

Variant Present in the following documents:

• Main text
• 12265_2012_Article_9425.pdf

View BVdb publication page

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High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.

Bmc Medical Genetics

Santos, Susana S; Marques, Vanda V; Pires, Marina M; Silveira, Leonor L; Oliveira, Helena H; Lança, Vasco V; Brito, Dulce D; Madeira, Hugo H; Esteves, J Fonseca JF; Freitas, António A; Carreira, Isabel M IM; Gaspar, Isabel M IM; Monteiro, Carolino C; Fernandes, Alexandra R AR

Publication Date: 2012-03-19

Variant appearance in text: rs3729936

PubMed Link: 22429680

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.

Plos One

Posch, Maximilian G MG; Waldmuller, Stephan S; Müller, Melanie M; Scheffold, Thomas T; Fournier, David D; Andrade-Navarro, Miguel A MA; De Geeter, Bernard B; Guillaumont, Sophie S; Dauphin, Claire C; Yousseff, Dany D; Schmitt, Katharina R KR; Perrot, Andreas A; Berger, Felix F; Hetzer, Roland R; Bouvagnet, Patrice P; Özcelik, Cemil C

Publication Date: 2011

Variant appearance in text: MYBPC3: 2737+12C>T; rs3729936

PubMed Link: 22194935

Variant Present in the following documents:

• pone.0028872.s001.pdf

View BVdb publication page

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Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.

Journal Of Cellular Physiology

Roncarati, Roberta R; Latronico, Michael V G MV; Musumeci, Beatrice B; Aurino, Stefania S; Torella, Annalaura A; Bang, Marie-Louise ML; Jotti, Gloria Saccani GS; Puca, Annibale A AA; Volpe, Massimo M; Nigro, Vincenzo V; Autore, Camillo C; Condorelli, Gianluigi G

Publication Date: 2011-11

Variant appearance in text: rs3729936

PubMed Link: 21302287

Variant Present in the following documents:

• jcp0226-2894.pdf

View BVdb publication page

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