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http://purl.uniprot.org/uniprot/Q6ZSZ5In RP78; decreased function in positive regulation of Rho protein signal transduction; loss of function in regulation of actomyosin structure organization.
http://purl.uniprot.org/uniprot/P41181In ANDI; exerts a dominant-negative effect on wild-type-AQP2 in that it interferes with its trafficking to the apical membrane; is a loss of function instead of a gain of function mutation on dominant nephrogenic diabetes insipidus.
http://purl.uniprot.org/uniprot/Q8TD30In MRT49; loss of function mutation.
http://purl.uniprot.org/uniprot/Q8N100In PHPVAR; loss of function; polypeptide is stable, but does not bind DNA or activate transcription; does not restore retinal ganglion cell development in retinal explants from a mouse Atoh7 null mutant.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis; unknown pathological significance.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96F25In CMS15; results in a severe reduction in protein expression; loss of function mutation.
http://purl.uniprot.org/uniprot/P51795In LMWPHN; causes retention in the endoplasmic reticulum and alters protein stability; total loss of function.
http://purl.uniprot.org/uniprot/P51795In NPHL2; causes retention in the endoplasmic reticulum and alters protein stability; total loss of function.
http://purl.uniprot.org/uniprot/P51795In NPHL2; causes retention in the endoplasmic reticulum and alters protein stability; total loss of function.
http://purl.uniprot.org/uniprot/P51795In NPHL2; abolishes the chloride currents; total loss of function.
http://purl.uniprot.org/uniprot/P51530In PEOA6; the mutant protein has decreased nuclease activity (30% of wild-type) and enhanced helicase activity; consistent with a loss of function mutation.
http://purl.uniprot.org/uniprot/P51530In PEOA6; the mutant protein has significantly reduced nuclease and helicase activity; consistent with a loss of function mutation.
http://purl.uniprot.org/uniprot/P51530In PEOA6; the mutant protein has a complete loss of nuclease activity and severely impaired helicase activity; consistent with a loss of function mutation.
http://purl.uniprot.org/uniprot/Q9Y2Z9Probable disease-associated mutation found in patients with Schwannomatosis; loss of function.
http://purl.uniprot.org/uniprot/P48165In CTRCT1; incomplete penetrance; results in loss of function.