Varaico: Literature-Extracted Genetic Variants

Gene:MYH2
Variant:p.S1043A
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MYH2

NM_017534.6:p.S1043A

Associated Papers

Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.

Barbosa-Gouveia S et al.

Journal of Clinical Medicine, 2022

35628876 (PubMed )
Supplement: jcm-11-02750-s001.zip › jcm-1640664-supplementary.pdf

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data
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