All individuals with variants in gene MPLKIP

18 entries on 1 page. Showing entries 1 - 18.
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VIP     
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Owner     
00080899 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - TTD4;TTDN1 Trichothiodystrophy 4, nonphotosensitive (OMIM:234050) 1 1 Daniel Trujillano
00260764 FamA PubMed: Nakabayashi 2005 3-generation family, 7 affected 5F, 2M), unaffected heterozygous carrier parents/relatives heterozygous carriers/relatives F;M - United States Amish - - - - TTD see paper; …, mental retardation, decreased fertility 1 1 Johan den Dunnen
00260765 FamB PubMed: Nakabayashi 2005 2-generation family, 2 affected (F, M), unaffected heterozygous carrier mother/relatives F;M - United States Amish - - - - TTD see paper; …, mental retardation, decreased fertility 1 1 Johan den Dunnen
00260766 FamC PubMed: Nakabayashi 2005 2-generation family, 1 affected (M), unaffected parents M - United States Amish - - - - TTD see paper; …, mental retardation, decreased fertility 1 1 Johan den Dunnen
00260767 FamD PubMed: Nakabayashi 2005 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M - United States Amish - - - - TTD see paper; …, mental retardation, decreased fertility 1 1 Johan den Dunnen
00260768 FamE PubMed: Nakabayashi 2005 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives F;M - United States Amish - - - - TTD see paper; …, mental retardation, decreased fertility 1 1 Johan den Dunnen
00260769 FamMor PubMed: Nakabayashi 2005 family, several affected siblings - - Morocco - - - - - TTD see paper; …, mental retardation, decreased fertility 1 1 Johan den Dunnen
00260770 Pat PubMed: Nakabayashi 2005 - - - Italy - - - - - TTD see paper; …, mental retardation, decreased fertility, severe nervous-system impairment 1 1 Johan den Dunnen
00260771 TTD5PV PubMed: Botta 2007 - F - Italy - - - - - TTD see paper; …, moderate severity 1 1 Johan den Dunnen
00260772 TTD16PV PubMed: Botta 2007 - F - Italy - - - - - TTD see paper; …, severe 1 1 Johan den Dunnen
00260773 TTD31PV PubMed: Botta 2007 - F - Italy - - - - - TTD see paper; …, moderate severity 2 1 Johan den Dunnen
00260774 TTD1MA PubMed: Botta 2007 - F - Kuwait India - - - - TTD see paper; …, severe 1 1 Johan den Dunnen
00260775 TTD10RO PubMed: Botta 2007 - M - Iraq - - - - - TTD see paper; …, moderate severity 1 1 Johan den Dunnen
00260776 TTD11RO PubMed: Botta 2007 - F - Netherlands - - - - - TTD see paper; …, moderate severity 1 1 Johan den Dunnen
00260777 FamPat PubMed: Swagemakers 2014 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M no Netherlands - - - - - TTD see paper; ..., 1 2 Johan den Dunnen
00311081 - PubMed: Strang-Karlsson 2021, Journal: Strang-Karlsson 2021 Parents are heterozygous carriers F no Finland - - - - - TTD4;TTDN1 - 1 1 Sonja Strang-Karlsson
00311082 - PubMed: Strang-Karlsson 2021, Journal: Strang-Karlsson 2021 - F no Finland - - - - - TTD4;TTDN1 - 1 2 Sonja Strang-Karlsson
00311083 - PubMed: Strang-Karlsson 2021, Journal: Strang-Karlsson 2021 - F no Finland - - - - - TTD4;TTDN1 - 1 1 Sonja Strang-Karlsson
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