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pro vyhledávání: '"Leonie Elsner"'
Autor:
Tess Holling, Gandham S. Bhavani, Leonie Elsner, Hitesh Shah, Neethukrishna Kausthubham, Shaila S. Bhattacharyya, Anju Shukla, Geert R. Mortier, Thorsten Schinke, Tatyana Danyukova, Sandra Pohl, Kerstin Kutsche, Katta M. Girisha
Publikováno v:
Human mutation
BNIP1 (BCL2 interacting protein 1) is a soluble N-ethylmaleimide-sensitive factor-attachment protein receptor involved in ER membrane fusion. We identified the homozygous BNIP1 intronic variant c.84+3A>T in the apparently unrelated patients 1 and 2 w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed3375f6025348c6b13b3a7e4fed3447
https://lirias.kuleuven.be/handle/20.500.12942/693956
https://lirias.kuleuven.be/handle/20.500.12942/693956
