Associated Papers
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.
Redfield SE et al.
Human Genetics, 2024
PKHD1L1, A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss.
Redfield SE et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
Ilyas M et al.
Bmc Genomics, 2015
25887915 (PubMed )
Supplement: 12864_2015_1290_MOESM5_ESM.xlsx › Sheet1
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.
Iqbal Z et al.
European Journal of Human Genetics : Ejhg, 2013
Select a paper to view details