Publications:

Disease mutations in striated muscle myosins.

Biophysical Reviews

Parker, Francine F; Peckham, Michelle M

Publication Date: 2020-08

Variant appearance in text: MYH7: Ala1744Ser

PubMed Link: 32651905

Variant Present in the following documents:

• 12551_2020_721_MOESM1_ESM.pdf

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Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy.

Molecular Genetics & Genomic Medicine

Gardner, R J McKinlay RJM; Crozier, Ian G IG; Binfield, Alex L AL; Love, Donald R DR; Lehnert, Klaus K; Gibson, Kate K; Lintott, Caroline J CJ; Snell, Russell G RG; Jacobsen, Jessie C JC; Jones, Peter P PP; Waddell-Smith, Kathryn E KE; Kennedy, Martin A MA; Skinner, Jonathan R JR

Publication Date: 2019-01

Variant appearance in text: MYH7: A1744S

PubMed Link: 30345660

Variant Present in the following documents:

• Main text
• MGG3-7-na.pdf

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Post-mortem Whole exome sequencing with gene-specific analysis for autopsy-negative sudden unexplained death in the young: a case series.

Pediatric Cardiology

Narula, Nupoor N; Tester, David J DJ; Paulmichl, Anna A; Maleszewski, Joseph J JJ; Ackerman, Michael J MJ

Publication Date: 2015-04

Variant appearance in text: MYH7: A1744S

PubMed Link: 25500949

Variant Present in the following documents:

• Main text

View BVdb publication page