Varaico: Literature-Extracted Genetic Variants

Gene:MYL5
Variant:p.E123G
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MYL5

NM_002477.2:p.E123G

Associated Papers

A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service.

Seaby EG et al.

Healthcare (basel, Switzerland), 2023

38132069 (PubMed )
Supplement: healthcare-11-03179-s001.zip › healthcare-2730148-supplementary.xlsx › Table_S2

A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service.

Seaby EG et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36778464 (PubMed )
Supplement: media-1.xlsx › Table_2

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1535.548
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