All individuals with variants in gene PLCB1

9 entries on 1 page. Showing entries 1 - 9.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00116910 S_321:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116960 S_449:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116962 S_459:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116996 S_521:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00117006 S_548:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00117084 S_701:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00150156 26539891-FamBAB5057 PubMed: Karaca 2015 - - - - - - - family structure in paper - ? intellectual diability, seizures, encephalopathy 1 3 Johan den Dunnen
00210051 KEL PubMed: Vadgama 2019, Journal: Vadgama 2019 - F no (United Kingdom (Great Britain)) - - - - - lactose intol. - 1 1 Nirmal Vadgama
00434866 CMC04 PubMed: Gostain 2020 - M - Canada - - - - - ? global developmental delay/intellectual disability, seizures, hypotonia, structural central nervous system anomalies 1 1 Johan den Dunnen
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