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English
Loss of function mutations in SIL1 cause Marinesco-Sjögren syndrome
scientific article published on 01 May 2006
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16650075
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16650075%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 January 2020
title
Loss of function mutations in SIL1 cause Marinesco-Sjögren syndrome
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16650075
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16650075%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 January 2020
author name string
Van Raamsdonk JM
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16650075
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16650075%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 January 2020
publication date
1 May 2006
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16650075
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16650075%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 January 2020
published in
Clinical Genetics
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16650075
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16650075%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 January 2020
volume
69
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16650075
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16650075%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 January 2020
issue
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16650075
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16650075%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 January 2020
page(s)
399-400
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16650075
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16650075%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 January 2020
Identifiers
DOI
10.1111/J.1399-0004.2006.00595A.X
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16650075
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16650075%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 January 2020
PubMed publication ID
16650075
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16650075
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16650075%20AND%20SRC:MED&resulttype=core&format=json
retrieved
20 January 2020
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