Associated Papers
Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles.
Rezaei M et al.
The Journal of Clinical Investigation, 2024
39545410 (PubMed )
Supplement: jci-134-170669-s068.xlsx › Supplemental_Table_2
TFIIH central activity in nucleotide excision repair to prevent disease.
Theil AF et al.
Dna Repair, 2023
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30787465 (PubMed )
Supplement: NIHMS1525468-supplement-Large_Excel_File.xlsx › Table_S7
Differences in clinical phenotype among patients with XP complementation group D: 3D structure and ATP-docking of XPD in silico.
Nakano E et al.
The Journal of Investigative Dermatology, 2014
Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).
Emmert S et al.
Experimental Dermatology, 2009
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