Associated Papers
Expanding the phenotypic spectrum associated with CFAP43 mutations: a case report of familial male infertility with respiratory manifestations.
Awad F et al.
Frontiers in Reproductive Health, 2025
41341611 (PubMed )
Supplement: Datasheet1.xlsx › Patient_1
A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.
Zhu Y et al.
European Journal of Human Genetics : Ejhg, 2024
38627542 (PubMed )
Supplement: 41431_2024_1573_MOESM3_ESM.xlsx › Sheet1
Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.
Valentine H et al.
Cancer Research Communications, 2022
36643868 (PubMed )
Supplement: crc-22-0245-s07.xlsx › Variants_All_Exonic.exclude_ncR
Structural modeling of human AKAP3 protein and in silico analysis of single nucleotide polymorphisms associated with sperm motility.
Rafaee A et al.
Scientific Reports, 2022
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A06Y-01A.domain
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