Anna Biernacka to Pedigree
This is a "connection" page, showing publications Anna Biernacka has written about Pedigree.
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AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant. J Appl Genet. 2020 May; 61(2):213-218.
Score: 0.037
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Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review. Eur J Med Genet. 2018 Mar; 61(3):157-160.
Score: 0.032
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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.
Score: 0.031