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Connection

Anna Biernacka to Homozygote

This is a "connection" page, showing publications Anna Biernacka has written about Homozygote.
Connection Strength

0.224
  1. Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy. Sci Rep. 2017 06 13; 7(1):3362.
    View in: PubMed
    Score: 0.142
  2. AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant. J Appl Genet. 2020 May; 61(2):213-218.
    View in: PubMed
    Score: 0.043
  3. 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.
    View in: PubMed
    Score: 0.039
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.