Varaico: Literature-Extracted Genetic Variants

Gene:SYNM
Variant:p.A1058V
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SYNM

NM_145728.3:p.A1058V

Associated Papers

Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.

Pinheiro M et al.

Cancers, 2020

32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2

A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.

Meinke P et al.

Ebiomedicine, 2020

31862442 (PubMed )
Supplement: mmc1.xlsx › Family_Sequencing
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