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http://purl.uniprot.org/uniprot/P12235In MTDPS12B; loss of function in ADP transport.
http://purl.uniprot.org/uniprot/P12235In MTDPS12B; loss of function in ADP transport.
http://purl.uniprot.org/uniprot/Q13873In PPH1; complete loss of function.
http://purl.uniprot.org/uniprot/O00555In EA2; loss of function.
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/P50993In FHM2; loss of function.
http://purl.uniprot.org/uniprot/P50993In FHM2; loss of function.
http://purl.uniprot.org/uniprot/Q01484In LQT4; loss of function.
http://purl.uniprot.org/uniprot/Q01484In LQT4; loss of function.
http://purl.uniprot.org/uniprot/Q01484In LQT4; loss of function.
http://purl.uniprot.org/uniprot/Q01484In LQT4; loss of function.
http://purl.uniprot.org/uniprot/Q01484In LQT4; loss of function.
http://purl.uniprot.org/uniprot/Q08289In BRGDA4; loss of function.
http://purl.uniprot.org/uniprot/Q13936In BRGDA3; loss of function.
http://purl.uniprot.org/uniprot/Q13936In BRGDA3; loss of function.
http://purl.uniprot.org/uniprot/Q53EZ4In MARCH; loss of protein localization to midbody ring; loss of function; fails to rescue craniofacial development when expressed in a zebrafish heterologous system.
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/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; unknown pathological significance.
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.