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http://purl.uniprot.org/uniprot/P53701"In LSDMCA1; loss of function; no effect on localization to mitochondrion."xsd:string
http://purl.uniprot.org/uniprot/P53701"In LSDMCA1; loss of function; no effect on localization to mitochondrion."xsd:string
http://purl.uniprot.org/uniprot/P53701"In LSDMCA1; loss of function; loss of localization to mitochondrion."xsd:string
http://purl.uniprot.org/uniprot/P53701"In LSDMCA1; loss of function; loss of localization to mitochondrion."xsd:string
http://purl.uniprot.org/uniprot/Q53EZ4"In MARCH; loss of protein localization to midbody ring; loss of function; fails to rescue craniofacial development when expressed in a zebrafish heterologous system."xsd:string
http://purl.uniprot.org/uniprot/Q53EZ4"In MARCH; loss of protein localization to midbody ring; loss of function; fails to rescue craniofacial development when expressed in a zebrafish heterologous system."xsd:string
http://purl.uniprot.org/uniprot/P51795"In DENT1; abolishes the chloride currents; total loss of function."xsd:string
http://purl.uniprot.org/uniprot/P51795"In DENT1; abolishes the chloride currents; total loss of function."xsd:string
http://purl.uniprot.org/uniprot/P51795"In DENT1; causes retention in the endoplasmic reticulum and alters protein stability; total loss of function."xsd:string
http://purl.uniprot.org/uniprot/P51795"In DENT1; causes retention in the endoplasmic reticulum and alters protein stability; total loss of function."xsd:string
http://purl.uniprot.org/uniprot/P51795"In LMWPHN; causes retention in the endoplasmic reticulum and alters protein stability; total loss of function."xsd:string
http://purl.uniprot.org/uniprot/P51795"In DENT1; causes retention in the endoplasmic reticulum and alters protein stability; total loss of function."xsd:string
http://purl.uniprot.org/uniprot/P51795"In DENT1; causes retention in the endoplasmic reticulum and alters protein stability; total loss of function."xsd:string
http://purl.uniprot.org/uniprot/P51795"In LMWPHN; causes retention in the endoplasmic reticulum and alters protein stability; total loss of function."xsd:string
http://purl.uniprot.org/uniprot/P51788"In LKPAT; loss of function mutation; the mutant protein is restricted to the endoplasmic reticulum and hardly reached the plasma membrane; lower amounts of the mutant protein compared to wild-type."xsd:string
http://purl.uniprot.org/uniprot/P51788"In LKPAT; loss of function mutation; the mutant protein is restricted to the endoplasmic reticulum and hardly reaches the plasma membrane; lower amounts of the mutant protein compared to wild-type."xsd:string
http://purl.uniprot.org/uniprot/P51788"In LKPAT; loss of function mutation; the mutant protein is restricted to the endoplasmic reticulum and hardly reaches the plasma membrane; lower amounts of the mutant protein compared to wild-type."xsd:string
http://purl.uniprot.org/uniprot/P51788"In LKPAT; loss of function mutation; the mutant protein is restricted to the endoplasmic reticulum and hardly reached the plasma membrane; lower amounts of the mutant protein compared to wild-type."xsd:string
http://purl.uniprot.org/uniprot/Q9Y2Z9"Found in patients with Schwannomatosis; likely pathogenic; loss of function."xsd:string
http://purl.uniprot.org/uniprot/Q9Y2Z9"Found in patients with Schwannomatosis; likely pathogenic; loss of function."xsd:string
http://purl.uniprot.org/uniprot/Q07973"In HCINF1; complete loss of function."xsd:string
http://purl.uniprot.org/uniprot/Q07973"In HCINF1; complete loss of function."xsd:string
http://purl.uniprot.org/uniprot/Q07973"In HCINF1; complete loss of function."xsd:string
http://purl.uniprot.org/uniprot/Q07973"In HCINF1; complete loss of function."xsd:string
http://purl.uniprot.org/uniprot/Q07973"In HCINF1; complete loss of function."xsd:string
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