CP c.778del ;(p.Y260Ifs*3)

Variant ID: 3-148927001-TA-T

NM_000096.3(CP):c.778del;(p.Y260Ifs*3)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.

Nature Genetics
Becker-Heck, Anita A; Zohn, Irene E IE; Okabe, Noriko N; Pollock, Andrew A; Lenhart, Kari Baker KB; Sullivan-Brown, Jessica J; McSheene, Jason J; Loges, Niki T NT; Olbrich, Heike H; Haeffner, Karsten K; Fliegauf, Manfred M; Horvath, Judith J; Reinhardt, Richard R; Nielsen, Kim G KG; Marthin, June K JK; Baktai, Gyorgy G; Anderson, Kathryn V KV; Geisler, Robert R; Niswander, Lee L; Omran, Heymut H; Burdine, Rebecca D RD
Publication Date: 2011-01

Variant appearance in text: CP: 778del
PubMed Link: 21131974
Variant Present in the following documents:
  • Main text
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