DMD c.802_804del ;(p.L268del)

Variant ID: X-32717256-GTAA-G

NM_004006.2(DMD):c.802_804del;(p.L268del)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yuan, Bo B; Neira, Juanita J; Pehlivan, Davut D; Santiago-Sim, Teresa T; Song, Xiaofei X; Rosenfeld, Jill J; Posey, Jennifer E JE; Patel, Vipulkumar V; Jin, Weihong W; Adam, Margaret P MP; Baple, Emma L EL; Dean, John J; Fong, Chin-To CT; Hickey, Scott E SE; Hudgins, Louanne L; Leon, Eyby E; Madan-Khetarpal, Suneeta S; Rawlins, Lettie L; Rustad, Cecilie F CF; Stray-Pedersen, Asbjørg A; Tveten, Kristian K; Wenger, Olivia O; Diaz, Jullianne J; Jenkins, Laura L; Martin, Laura L; McGuire, Marianne M; Pietryga, Marguerite M; Ramsdell, Linda L; Slattery, Leah L; , ; Abid, Farida F; Bertuch, Alison A AA; Grange, Dorothy D; Immken, LaDonna L; Schaaf, Christian P CP; Van Esch, Hilde H; Bi, Weimin W; Cheung, Sau Wai SW; Breman, Amy M AM; Smith, Janice L JL; Shaw, Chad C; Crosby, Andrew H AH; Eng, Christine C; Yang, Yaping Y; Lupski, James R JR; Xiao, Rui R; Liu, Pengfei P
Publication Date: 2019-03

Variant appearance in text: DMD: 802_804del
PubMed Link: 30158690
Variant Present in the following documents:
  • Main text
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