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meckel syndrome
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MKS1
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
TMEM216
A human protein-protein interaction network: a resource for annotating the proteome.
TMEM67
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat
CEP290
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
CC2D2A
Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle
NPHP3
STAND, a class of P-loop NTPases including animal and plant regulators of programmed cell death: multiple, complex domain architectures, unusual phyletic patterns, and evolution by horizontal gene transfer