Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis
Crossref DOI link: https://doi.org/10.1007/s00439-015-1548-3
Published Online: 2015-04-17
Published Print: 2015-06
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Pehlivan, Davut
,
Coban Akdemir, Zeynep
Karaca, Ender
Bayram, Yavuz
Jhangiani, Shalini
Yildiz, Edibe Pembegul
Muzny, Donna
Uluc, Kayihan
Gibbs, Richard A.
Elcioglu, Nursel
Lupski, James R.
Harel, Tamar
Text and Data Mining valid from 2015-04-17