10.6084/m9.figshare.c.3699901_D3.v1
Yock-Ping Chow
Yock-Ping
Chow
Nor Azian Abdul Murad
Nor Azian
Abdul Murad
Zamzureena Mohd Rani
Zamzureena
Mohd Rani
Jia-Shiun Khoo
Jia-Shiun
Khoo
Pei-Sin Chong
Pei-Sin
Chong
Loo-Ling Wu
Loo-Ling
Wu
Rahman Jamal
Rahman
Jamal
Additional file 2: Table S1. of Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family
Springer Nature
2017
Pendred syndrome
Exome sequencing
Syndromic hearing loss
Childhood deafness
Autosomal recessive inheritance
2017-02-21 05:00:00
Dataset
https://springernature.figshare.com/articles/dataset/Additional_file_2_Table_S1_of_Exome_sequencing_identifies_SLC26A4_GJB2_SCARB2_and_DUOX2_mutations_in_2_siblings_with_Pendred_syndrome_in_a_Malaysian_family/4680304
List of non-synonymous heterozygous mutations inherited from father. (XLSX 94 kb)