All individuals with variants in gene PHKB

15 entries on 1 page. Showing entries 1 - 15.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00033808 - - - F no United Kingdom (Great Britain) - - 0 - - GSD - 1 1 Shu Yau
00033816 - - - M - Australia - - 0 - - GSD-9B - 2 1 Shu Yau
00033817 - - - F - Australia - - 0 - - GSD - 1 1 Shu Yau
00033818 - - - F - Australia - - 0 - - GSD-9B - 2 1 Shu Yau
00039399 - PubMed: Bosch 2016, Journal: Bosch 2016 - F yes ? (unknown) - - 0 - - CVI, ID see paper; ... 1 1 Danielle Bosch
00174819 29970176-Pat205 PubMed: Fichna 2018 - F - Poland - - 0 - - LGMD onset overt symptoms adulthood; CPK raised 4x; asymmetric limb-girdle weakness; transient respiratory failure after general anesthesia; generalized muscle atrophy, calf atrophy; no clear dystrophic features in biopsy; ambulation preserved 2 1 Johan den Dunnen
00291466 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 15 Mohammed Faruq
00291467 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00291468 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 7 Mohammed Faruq
00291469 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 102 Mohammed Faruq
00291470 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00291471 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00329065 Pat41 PubMed: Davit-Spraul 2011 - F - France - - 0 - - GSD see paper; ... 1 1 LOVD
00329066 Pat42 PubMed: Davit-Spraul 2011 - M - France - - 0 - - GSD see paper; ... 2 1 LOVD
00329067 Pat43 PubMed: Davit-Spraul 2011 - M - France - - 0 - - GSD see paper; ... 2 1 LOVD
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