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Number of items: 5.
2018
Colombo, M;
Lòpez-Perolio, I;
Meeks, HD;
Caleca, L;
Parsons, M;
Li, H;
De Vecchi, G;
Tudini, E;
Foglia, C;
Mondini, P;
+105 more...
(2018)
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Human mutation.
ISSN 1059-7794
DOI: https://doi.org/10.1002/humu.23411
2012
Lambrechts, D;
Truong, T;
Justenhoven, C;
Humphreys, MK;
Wang, J;
Hopper, JL;
Dite, GS;
Apicella, C;
Southey, MC;
Schmidt, MK;
+143 more...
(2012)
11q13 is a susceptibility locus for hormone receptor positive breast cancer.
Human mutation, 33 (7).
pp. 1123-1132.
ISSN 1059-7794
DOI: https://doi.org/10.1002/humu.22089
Full text not available from this repository.
Rubio, JP;
Topp, S;
Warren, L;
St Jean, PL;
Wegmann, D;
Kessner, D;
Novembre, J;
Shen, J;
Fraser, D;
Aponte, J;
+7 more...
(2012)
Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.
Human mutation, 33 (7).
pp. 1087-98.
ISSN 1059-7794
DOI: https://doi.org/10.1002/humu.22075
Full text not available from this repository.
2011
McKay, GJ;
Patterson, CC;
Chakravarthy, U;
Dasari, S;
Klaver, CC;
Vingerling, JR;
Ho, L;
de Jong, PT;
Fletcher, AE;
Young, IS;
+40 more...
(2011)
Evidence of association of APOE with age-related macular degeneration - a pooled analysis of 15 studies.
Human mutation, 32 (12).
pp. 1407-16.
ISSN 1059-7794
DOI: https://doi.org/10.1002/humu.21577
Full text not available from this repository.
2007
Alharbi, KK;
Spanakis, E;
Tan, K;
Smith, MJ;
Aldahmesh, MA;
O'Dell, SD;
Sayer, AA;
Lawlor, DA;
Ebrahim, S;
Smith, GD;
+5 more...
(2007)
Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE.
Human mutation, 28 (3).
pp. 294-302.
ISSN 1059-7794
DOI: https://doi.org/10.1002/humu.20404
Full text not available from this repository.
