(Q79089791)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14513821%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

title

A biochemical analysis demonstrates that the BRCA1 intronic variant IVS10-2A--> C is a mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14513821%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

A Biochemical analysis demonstrates that the BRCA1 intronic variant IVS10-2A→C is a mutation (English)

1 reference

Crossref

https://api.crossref.org/works/10.1007/S10038-003-0044-0

15 March 2024

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14513821

15 March 2024

1 reference

https://api.crossref.org/works/10.1007/S10038-003-0044-0

15 March 2024

author name string

Lauren Scheuer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14513821%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Thomas Scholl

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14513821%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Jessica C. Keaton

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14513821

15 March 2024

David R. Nielsen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14513821

15 March 2024

Brant C. Hendrickson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14513821

15 March 2024

Michael T. Pyne

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14513821

15 March 2024

Brian E. Ward

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14513821

15 March 2024

Arthur R. Brothman

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14513821

15 March 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14513821

15 March 2024

publication date

1 January 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14513821%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

19 December 2019

https://www.nature.com/articles/jhg200371.pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14513821

http://www.nature.com/articles/jhg200371.pdf

15 March 2024

file format

Portable Document Format

1 reference

Crossref

https://api.crossref.org/works/10.1007/S10038-003-0044-0

http://www.nature.com/articles/jhg200371

15 March 2024

1 reference

Crossref

https://api.crossref.org/works/10.1007/S10038-003-0044-0

Journal of Human Genetics

15 March 2024

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14513821%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

volume

48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14513821%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14513821%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

page(s)

399-403

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14513821%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10038-003-0044-0

19 December 2019

exact match

0 references

cites work

BRCA1 IVS16+6T-->C is a deleterious mutation that creates an aberrant transcript by activating a cryptic splice donor site

1 reference

12 December 2020

Conditional mutation of Brca1 in mammary epithelial cells results in blunted ductal morphogenesis and tumour formation.

1 reference

12 December 2020

Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families

1 reference

12 December 2020

Statistical features of human exons and their flanking regions

1 reference

12 December 2020

Characterization of functional messenger RNA splice variants of BRCA1 expressed in nonmalignant and tumor-derived breast cells

1 reference

12 December 2020

BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing.

1 reference

12 December 2020

The BRCA2 genetic variant IVS7 + 2T-->G is a mutation

1 reference

12 December 2020

A characterization of genetic variants in BRCA1 intron 8 identifies a mutation and a polymorphism.

1 reference

12 December 2020

Exon recognition in vertebrate splicing

1 reference

12 December 2020

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14513821%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

1 reference