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rs2476601
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trichothiodystrophy
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Genetic Markers
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HLA-B
RNF113A
ERCC3
GTF2E2
MPLKIP
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Pathway Enrichment
Most Correlated Biogroups
transcription factor TFIID complex
RNA polymerase II, holoenzyme
RNA polymerase complex
RNA polymerase II transcription factor complex
REACTOME_RNA_POL_II_TRANSCRIPTION_PRE_INITIATION_AND_PROMOTER_OPENING
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Literature
Most Relevant Literature
The physicochemical properties of hair in the BIDS syndrome.
Mental retardation, short stature and brittle hair (BIDS syndrome; hair brain syndrome).
Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities. A link between the …
Neurocutaneous syndrome with hair alterations].
Abnormal amino acid composition of nails in Bazex's paraneoplastic acrokeratosis.
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Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderm…
Natural History Study for DNA Repair Disorders
T4N5 Liposome Lotion Compared With Placebo Lotion for Preventing Actinic Keratoses in Patients With …
Growth Curves in Cockayne Syndrome Type 1 and Type 2
M1774 in Participants With Metastatic or Locally Advanced Unresectable Solid Tumors (DDRiver Solid T…
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