SMOC1 c.1108C>T ;(p.Q370*)

Variant ID: 14-70489981-C-T

NM_001034852.2(SMOC1):c.1108C>T;(p.Q370*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.

Plos Genetics
Rainger, Joe J; van Beusekom, Ellen E; Ramsay, Jacqueline K JK; McKie, Lisa L; Al-Gazali, Lihadh L; Pallotta, Rosanna R; Saponari, Anita A; Branney, Peter P; Fisher, Malcolm M; Morrison, Harris H; Bicknell, Louise L; Gautier, Philippe P; Perry, Paul P; Sokhi, Kishan K; Sexton, David D; Bardakjian, Tanya M TM; Schneider, Adele S AS; Elcioglu, Nursel N; Ozkinay, Ferda F; Koenig, Rainer R; Mégarbané, Andre A; Semerci, C Nur CN; Khan, Ayesha A; Zafar, Saemah S; Hennekam, Raoul R; Sousa, Sérgio B SB; Ramos, Lina L; Garavelli, Livia L; Furga, Andrea Superti AS; Wischmeijer, Anita A; Jackson, Ian J IJ; Gillessen-Kaesbach, Gabriele G; Brunner, Han G HG; Wieczorek, Dagmar D; van Bokhoven, Hans H; FitzPatrick, David R DR
Publication Date: 2018-12

Variant appearance in text: SMOC1: 1108C>T; Gln370X
PubMed Link: 30586382
Variant Present in the following documents:
  • pgen.1007866.pdf
View BVdb publication page



Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.

Plos Genetics
Rainger, Joe J; van Beusekom, Ellen E; Ramsay, Jacqueline K JK; McKie, Lisa L; Al-Gazali, Lihadh L; Pallotta, Rosanna R; Saponari, Anita A; Branney, Peter P; Fisher, Malcolm M; Morrison, Harris H; Bicknell, Louise L; Gautier, Philippe P; Perry, Paul P; Sokhi, Kishan K; Sexton, David D; Bardakjian, Tanya M TM; Schneider, Adele S AS; Elcioglu, Nursel N; Ozkinay, Ferda F; Koenig, Rainer R; Mégarbané, Andre A; Semerci, C Nur CN; Khan, Ayesha A; Zafar, Saemah S; Hennekam, Raoul R; Sousa, Sérgio B SB; Ramos, Lina L; Garavelli, Livia L; Furga, Andrea Superti AS; Wischmeijer, Anita A; Jackson, Ian J IJ; Gillessen-Kaesbach, Gabriele G; Brunner, Han G HG; Wieczorek, Dagmar D; van Bokhoven, Hans H; Fitzpatrick, David R DR
Publication Date: 2011-07

Variant appearance in text: SMOC1: Gln370X
PubMed Link: 21750680
Variant Present in the following documents:
  • Main text
  • pgen.1002114.pdf
View BVdb publication page