SI c.1051del ;(p.W351Gfs*7)

Variant ID: 3-164777784-CA-C

NM_001041.3(SI):c.1051del;(p.W351Gfs*7)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype.

International Journal Of Molecular Sciences
Ostrowski, Lawrence E LE; Yin, Weining W; Smith, Amanda J AJ; Sears, Patrick R PR; Bustamante-Marin, Ximena M XM; Dang, Hong H; Hildebrandt, Friedhelm F; Daniels, Leigh Anne LA; Capps, Nicole A NA; Sullivan, Kelli M KM; Leigh, Margaret W MW; Zariwala, Maimoona A MA; Knowles, Michael R MR
Publication Date: 2022-02-03

Variant appearance in text: SI: 1050delT
PubMed Link: 35163670
Variant Present in the following documents:
  • ijms-23-01753.pdf
View BVdb publication page



Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype.

International Journal Of Molecular Sciences
Ostrowski, Lawrence E LE; Yin, Weining W; Smith, Amanda J AJ; Sears, Patrick R PR; Bustamante-Marin, Ximena M XM; Dang, Hong H; Hildebrandt, Friedhelm F; Daniels, Leigh Anne LA; Capps, Nicole A NA; Sullivan, Kelli M KM; Leigh, Margaret W MW; Zariwala, Maimoona A MA; Knowles, Michael R MR
Publication Date: 2022-02-03

Variant appearance in text: SI: 1050delT
PubMed Link: 35163670
Variant Present in the following documents:
  • ijms-23-01753.pdf
View BVdb publication page