PDLIM3

PDLIM3

A gene on chromosome 4q35 that encodes a protein containing a PDZ domain and a LIM domain, suggesting a role in cytoskeletal assembly in skeletal muscle.
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Read-depth analysis for coding and invariant splice-site nucleotides within the BHD-linked locus * Gene Start Stop Strand IRF2 185 395 726 185 308 876 - CASP3 185 570 629 185 548 850 - PRIMPOL 185 570 767 185 616 113 + CENPU 185 615 219 185 655 286 - ACSL1 185 747 268 185 676 749 - HELP 185 940 083 185 941 926 + SLC25A4 186 064 417 186 071 538 + CFAP97 186 080 816 186 125 182 - SNX25 186 131 284 186 285 120 + LRP2BP 186 300 152 186 285 032 - ANKRD37 186 317 840 186 321 390 + UFSP2 186 347 139 186 320 694 - C4orf47 186 350 545 186 370 821 + CCDC110 186 392 913 186 366 338 - PDLIM3 186 456 712 186 421 815 - SORBS2 ([dagger]) 186 877 870 186 506 598 - Mean Gene Annotated Exons, n Coding transcript nucleotides, n IRF2 NM 002199.
Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia
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