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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/Q08289In BRGDA4; loss of function.
http://purl.uniprot.org/uniprot/Q9H165In IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3.
http://purl.uniprot.org/uniprot/Q9H165In IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3.
http://purl.uniprot.org/uniprot/Q9H165In IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3.
http://purl.uniprot.org/uniprot/Q9H165In IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3.
http://purl.uniprot.org/uniprot/Q9H165In IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3.
http://purl.uniprot.org/uniprot/Q9H165In IDPFH, de novo mutation, loss of function transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3.
http://purl.uniprot.org/uniprot/Q9H165In IDPFH; de novo mutation; loss of function in transactivation of transcription; reduces the interaction between isoform 2 and isoform 3; disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3.
http://purl.uniprot.org/uniprot/Q9H165In IDPFH; de novo mutation; loss of function in transactivation of transcription; reduces the interaction between isoform 2 and isoform 3; disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3.
http://purl.uniprot.org/uniprot/Q9H165In IDPFH; de novo mutation; loss of function in transactivation of transcription; reduces the interaction between isoform 2 and isoform 3; disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3.
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/Q13936In BRGDA3; loss of function.
http://purl.uniprot.org/uniprot/Q13936In BRGDA3; loss of function.
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/O00555In EA2; loss of function.
http://purl.uniprot.org/uniprot/O00555In SCA6; also found in patients with global developmental delay and congenital ataxia; loss of function observed in the Drosophila homolog.