Individual #00001762

Reference Kabzińska D1, Korwin-Piotrowska T, Drechsler H, Drac H, Hausmanowa-Petrusewicz I, Kochański A.(2007)
Ethnic origin -
Remarks -
Panel size 1
Diseases HMSN
Owner name Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang


Stop! No phenotypes found for this individual!



Screenings


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Owner     
0000001762 ? ? MPZ 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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AscendingDNA change (genomic) (hg19)     

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1 Unknown ./. g.161276633G>T Kabzińska D1, Korwin-Piotrowska T, Drechsler H, Drac H, Hausmanowa-Petrusewicz I, Kochański A.(2007) MPZ_000030 - Y Yang MPZ 3 NM_000530.6:c.313C>A r.(?) p.(Pro105Thr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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