Varaico: Literature-Extracted Genetic Variants

Gene:MMEL1
Variant:p.M258L
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MMEL1

NM_033467.4:p.M258L

Associated Papers

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6

Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2.

Visschedijk MC et al.

Plos One, 2016

27490946 (PubMed )
Supplement: pone.0159609.s002.xlsx › Results_Discovery_phase_I
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