Associated Papers
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy.
Musumeci A et al.
Biomedicines, 2022
36140376 (PubMed )
Supplement: biomedicines-10-02276-s001.zip › Supplementary_Table_S2.xlsx › 5078-NP1688_Leuko_v1-full
A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.
Li Q et al.
Bmc Medical Genomics, 2022
35864542 (PubMed )
Supplement: 12920_2022_1315_MOESM2_ESM.xlsx › RawData
Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.
Lei P et al.
Plos One, 2022
36350814 (PubMed )
Supplement: pone.0276233.s004.xlsx › RawData
Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance.
Khan S et al.
Bmc Research Notes, 2021
33743798 (PubMed )
Supplement: 13104_2021_5514_MOESM4_ESM.zip › Supplementary_File_1A-1.xlsx › Supplementary_File_1A-1.exonic_
Select a paper to view details