JAMES LUPSKI to Muscular Dystrophies, Limb-Girdle
This is a "connection" page, showing publications JAMES LUPSKI has written about Muscular Dystrophies, Limb-Girdle.
Connection Strength
0.989
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Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. Am J Med Genet A. 2022 03; 188(3):735-750.
Score: 0.775
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Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy. Am J Hum Genet. 2023 06 01; 110(6):989-997.
Score: 0.214