Anna Biernacka to Muscle Hypotonia
This is a "connection" page, showing publications Anna Biernacka has written about Muscle Hypotonia.
Connection Strength
0.304
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Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia. Hum Mol Genet. 2018 11 01; 27(21):3669-3674.
Score: 0.157
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New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation. Clin Genet. 2017 12; 92(6):671-673.
Score: 0.146