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A potential founder variant in [electronic resource] by
- Sorte, Hanne S
- Osnes, Liv T
- Fevang, Børre
- Aukrust, Pål
- Erichsen, Hans C
- Backe, Paul H
- Abrahamsen, Tore G
- Kittang, Ole B
- Øverland, Torstein
- Jhangiani, Shalini N
- Muzny, Donna M
- Vigeland, Magnus D
- Samarakoon, Pubudu
- Gambin, Tomasz
- Akdemir, Zeynep H C
- Gibbs, Richard A
- Rødningen, Olaug K
- Lyle, Robert
- Lupski, James R
- Stray-Pedersen, Asbjørg
Publication details: Molecular genetics & genomic medicine Nov 2016
In:
Molecular genetics & genomic medicine vol. 4
Availability: No items available.
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12.
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PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. [electronic resource] by
- Stray-Pedersen, Asbjørg
- Backe, Paul H
- Sorte, Hanne S
- Mørkrid, Lars
- Chokshi, Niti Y
- Erichsen, Hans Christian
- Gambin, Tomasz
- Elgstøen, Katja B P
- Bjørås, Magnar
- Wlodarski, Marcin W
- Krüger, Marcus
- Jhangiani, Shalini N
- Muzny, Donna M
- Patel, Ankita
- Raymond, Kimiyo M
- Sasa, Ghadir S
- Krance, Robert A
- Martinez, Caridad A
- Abraham, Shirley M
- Speckmann, Carsten
- Ehl, Stephan
- Hall, Patricia
- Forbes, Lisa R
- Merckoll, Else
- Westvik, Jostein
- Nishimura, Gen
- Rustad, Cecilie F
- Abrahamsen, Tore G
- Rønnestad, Arild
- Osnes, Liv T
- Egeland, Torstein
- Rødningen, Olaug K
- Beck, Christine R
- Boerwinkle, Eric A
- Gibbs, Richard A
- Lupski, James R
- Orange, Jordan S
- Lausch, Ekkehart
- Hanson, I Celine
Producer: 20140827
In:
American journal of human genetics vol. 95
Availability: No items available.
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