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1 Ergebnisse
1
Lisch epithelial corneal dystrophy is caused by heterozygou..:
Patterson, K
;
Chong, JX
;
Chung, DD
...
https://discovery.ucl.ac.uk/id/eprint/10179980/1/1-s2.0-S0002939423004403-main.pdf. , 2024
Link:
https://discovery.ucl.ac.uk/id/eprint/10179980/1/1-s2...
RT Journal T1 <Title>Lisch epithelial corneal dystrophy is caused by heterozygous loss-of-function variants in MCOLN1</Title> UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:10179980&Exemplar=1&LAN=DE A1 Patterson, K A1 Chong, JX A1 Chung, DD A1 Lisch, L A1 Møller, HU A1 Karp, CL A1 Dreisler, E A1 Lockington, D A1 Rohrbach, JM A1 Garczarczyk-Asim, D A1 Müller, T A1 Tuft, SJ A1 Skalicka, P A1 University of Washington Center for Rare Disease Research A1 Wilnai, Y A1 Samra, NN A1 Ibrahim, A A1 Mandel, H A1 Davidson, AE A1 Liskova, P A1 Aldave, AJ A1 Bamshad, MJ A1 Janecke, AR PB Elsevier Masson YR 2024 JF https://discovery.ucl.ac.uk/id/eprint/10179980/1/1-s2.0-S0002939423004403-main.pdf LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/10179980/1/1-s2.0-S0002939423004403-main.pdf DO https://discovery.ucl.ac.uk/id/eprint/10179980/1/1-s2.0-S0002939423004403-main.pdf SF ELIB - SuUB Bremen
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