This page shows the publications Kathryn Swoboda has written about Gene Deletion.
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype. Hum Genet. 2019 Mar; 138(3):241-256.
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene. Neuromuscul Disord. 2008 Jun; 18(6):453-9.
Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. . 2004 Oct 15; 130A(3):307-10.
Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease. Clin Genet. 2011 Feb; 79(2):176-82.
Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A. 2009 Oct; 149A(10):2173-80.
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