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IGS21 Rabbit Polyclonal Antibody, 20ul Virus Packaging Loss of function mutations in

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IGS21 Rabbit Polyclonal Antibody, 20ul Virus Packaging Loss of function mutations inThis gene encodes a protein which has two immunoglobulin (Ig) domains and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways.

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Description

Loss of function mutations in SLC16A2 are associated with psychomotor retardation in males while females exhibit no neurological defects and more moderate thyroid-deficient phenotypes

Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described

The LMO2 transcription start site is located approximately 25 kb downstream from the 11p13 T-cell translocation cluster (11p13 ttc)

Alternate splicing of CTSH results in multiple transcript variants encoding different isoforms

0 kb) has been shown to bind surfactant protein D independently of carbohydrate recognition

IGS21 Rabbit Polyclonal Antibody, 20ul Virus Packaging Loss of function mutations inThis gene encodes a protein which has two immunoglobulin (Ig) domains and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways.

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