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In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.
Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P. Koboldt DC, et al. Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5):a003160. doi: 10.1101/mcs.a003160. Print 2018 Oct. Cold Spring Harb Mol Case Stud. 2018. PMID: 30054298 Free PMC article.
The variant, which has never been reported, results in an in-frame 3-bp deletion and is predicted to cause loss of an evolutionarily conserved asparagine residue at position 546 in the protein. ...
The variant, which has never been reported, results in an in-frame 3-bp deletion and is predicted to cause loss of an evolutionarily …
An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I.
Zepeda-Mendoza CJ, Cousin MA, Basu S, Jenkinson G, Oliver G, Pittock ST, Baughn LB, Klee EW, Babovic-Vuksanovic D. Zepeda-Mendoza CJ, et al. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004655. doi: 10.1101/mcs.a004655. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31662300 Free PMC article.
Here we report an affected individual presenting with a classic TRPSI phenotype who is heterozygous for a de novo intragenic 36.3-kbp duplication affecting exons 2-4 of TRPS1 Molecular analysis revealed the duplication to be in direct tandem orientation affecting the splicing of …
Here we report an affected individual presenting with a classic TRPSI phenotype who is heterozygous for a de novo intragenic 36.3-kbp duplic …