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From uncertainty to pathogenicity: clinical and functional interrogation of a rare [electronic resource] by
- Quinn, Emily A
- Maciaszek, Jamie L
- Pinto, Emilia M
- Phillips, Aaron H
- Berdy, David
- Khandwala, Mohammad
- Upadhyaya, Santhosh A
- Zambetti, Gerard P
- Kriwacki, Richard W
- Ellison, David W
- Nichols, Kim E
- Kesserwan, Chimene
Producer: 20200706
In:
Cold Spring Harbor molecular case studies vol. 5
Availability: No items available.
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De novo missense variant in the GTPase effector domain (GED) of [electronic resource] by
- Assia Batzir, Nurit
- Bhagwat, Pranjali K
- Eble, Tanya N
- Liu, Pengfei
- Eng, Christine M
- Elsea, Sarah H
- Robak, Laurie A
- Scaglia, Fernando
- Goldman, Alica M
- Dhar, Shweta U
- Wangler, Michael F
Producer: 20200526
In:
Cold Spring Harbor molecular case studies vol. 5
Availability: No items available.
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