Associated Papers
Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.
Lang GT et al.
Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026
41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_2.pdf
Quantitative Foveal Structural Metrics as Predictors of Visual Acuity in Human Albinism.
Woertz EN et al.
Investigative Ophthalmology & Visual Science, 2024
38441889 (PubMed )
Supplement: iovs-65-3-3_s001.pdf
In vitro characterization of the intramelanosomal domain of human recombinant TYRP1 and its oculocutaneous albinism type 3-related mutant variants.
Dolinska MB et al.
Protein Science : a Publication of the Protein Society, 2023
Genomic analysis of a Palestinian family with inherited cancer syndrome: a next-generation sequencing study.
Fares E et al.
Frontiers in Genetics, 2023
Family-based exome sequencing identifies candidate genes related to keratoconus in Chinese families.
Xu L et al.
Frontiers in Genetics, 2022
A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.
Yuan Y et al.
Frontiers in Genetics, 2022
36159980 (PubMed )
Supplement: Table1.XLSX › SNP
Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.
Litts KM et al.
Translational Vision Science & Technology, 2021
34111268 (PubMed )
Supplement: tvst-10-6-22_s007.pdf
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 884.336
In silico screening and molecular dynamics simulation of disease-associated nsSNP in TYRP1 gene and its structural consequences in OCA3.
Kamaraj B et al.
Biomed Research International, 2013
Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70.
Singh LR et al.
Plos Genetics, 2010
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