The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation-Reference-Cited by-同舟云学术

The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation

Published:2022-12 Issue:12 Volume:65 Page:104627
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Redin Claire,Pavlidou Despina Christina,Bhuiyan Zahurul,Porretta Alessandra Pia,Monney Pierre,Bedoni Nicola,Maurer Fabienne,Sekarski Nicole,Atallah Isis,Émeline Davoine,Jeanrenaud Xavier,Pruvot Etienne,Fellay Jacques,Superti-Furga Andrea^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference36 articles.

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2. Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers;Adalsteinsdottir;Open Heart,2020

3. The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in The Netherlands;Alders;Eur. Heart J.,2003

4. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity;Alfares;Genet. Med.,2015

5. FastQC: a Quality Control Tool for High Throughput Sequence Data;Andrew,2010

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