(Q38321077)

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A newly identified patient with clinical xeroderma pigmentosum phenotype has a non-sense mutation in the DDB2 gene and incomplete repair in (6-4) photoproducts.

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10469312%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

A newly identified patient with clinical xeroderma pigmentosum phenotype has a non-sense mutation in the DDB2 gene and incomplete repair in (6-4) photoproducts (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10469312%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

xeroderma pigmentosum

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based on heuristic

inferred from title

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10469312%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

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Itoh T

1

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12 December 2019

Ohkubo H

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10469312%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

Yamaizumi M

4

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10469312%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

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1 August 1999

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12 December 2019

Journal of Investigative Dermatology

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10469312%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

113

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10469312%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

2

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12 December 2019

251-257

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10469312%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

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10.1046/J.1523-1747.1999.00652.X

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Europe PubMed Central

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12 December 2019

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12 December 2019

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