All individuals with variants in gene SMARCE1

31 entries on 1 page. Showing entries 1 - 31.
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Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00048041 - PubMed: Tsurusaki 2014 - F - - - - 0 - - CSS see paper; ..., see paper; … 1 1 Eline van der Sluijs
00048042 - PubMed: Wieczorek 2013 - F - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048054 - PubMed: Santen 2013 - M - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00091826 - - - M - - - - 0 - - meningioma - 1 1 Beatrice Parfait
00091827 - - - F - - - - 0 - - meningioma - 1 1 Beatrice Parfait
00091828 - - - M - - - - 0 - - meningioma - 1 1 Beatrice Parfait
00174016 Pat1 PubMed: Zarate 2016 - M - - - - 0 - - CSS - 1 1 Julia Lopez
00174017 Pat2 PubMed: Zarate 2016 - F - - - - 0 - - CSS - 1 1 Julia Lopez
00174018 Pat3 PubMed: Zarate 2016 - F - - - - 0 - - CSS - 1 1 Julia Lopez
00174080 II1, Fam4 PubMed: Smith MJ 2013 - F - - - - 0 - - meningioma clear cell; spinal 1 1 Julia Lopez
00174081 I2, Fam1 PubMed: Smith MJ 2013 - F - - - - 0 - - meningioma clear cell; spinal 1 1 Julia Lopez
00174082 II1, Fam2 PubMed: Smith MJ 2013 - F - - - - 0 - - meningioma clear cell; spinal 1 1 Julia Lopez
00174083 - PubMed: Smith MJ 2014 - F - - - - 0 - - meningioma clear cell; spinal 1 1 Julia Lopez
00174084 - PubMed: Smith MJ 2014 - F - - - - 0 - - meningioma clear cell; spinal/cranial 1 1 Julia Lopez
00174085 - PubMed: Smith MJ 2014 - F - - - - 0 - - meningioma clear cell; spinal 1 1 Julia Lopez
00174086 IV2 PubMed: Gerkes EH 2016 - M - - - - 0 - - meningioma clear cell meningeoma/ right cerebello-pontine angle 1 1 Julia Lopez
00174087 II1, Fam3 PubMed: Smith MJ 2013 - M - - - - 0 - - meningioma clear cell; spinal 1 1 Julia Lopez
00174088 II1, Fam4 PubMed: Smith MJ 2013 - F - - - - 0 - - meningioma clear cell; spinal 1 1 Julia Lopez
00174089 - PubMed: Smith MJ 2014 - M - - - - 0 - - meningioma clear cell; spinal 1 1 Julia Lopez
00174094 I2, Fam2 PubMed: Smith MJ 2013 - F - - - - 0 - - meningioma clear cell; spinal 1 1 Julia Lopez
00174095 II1, Fam2 PubMed: Smith MJ 2013 - F - - - - 0 - - meningioma clear cell; spinal 1 1 Julia Lopez
00174096 - PubMed: Smith MJ 2014 - F - - - - 0 - - meningioma clear cell; spinal/cranial 1 1 Julia Lopez
00174097 - PubMed: Smith MJ 2014 - F - - - - 0 - - meningioma clear cell; cranial 1 1 Julia Lopez
00174205 - PubMed: Smith MJ 2014 no evidence of disease at 71y M - - - - 0 - - Healthy/Control - 1 1 Julia Lopez
00174206 I1, Fam4 PubMed: Smith MJ 2013 ? - - - - - 0 - - Healthy/Control - 1 1 Julia Lopez
00174207 IV1 PubMed: Gerkes EH 2016 - F - - - - 0 - - Healthy/Control - 1 1 Julia Lopez
00174208 IV3 PubMed: Gerkes EH 2016 - M - - - - 0 - - Healthy/Control - 1 1 Julia Lopez
00174209 III2 PubMed: Gerkes EH 2016 - M - - - - 0 - - Healthy/Control - 1 1 Julia Lopez
00174210 III5 PubMed: Gerkes EH 2016 - F - - - - 0 - - Healthy/Control - 1 1 Julia Lopez
00174211 - PubMed: Smith MJ 2014 - M - - - - 0 - - Healthy/Control - 1 1 Julia Lopez
00374122 - PubMed: Lefebvre 2021 fetus M - France - - 0 - - ? 31w-fetus, ultrasound intrauterine growth retardation, corpus callosum agenesis; autopsy intrauterine growth retardation, corpus callosum agenesis, complex cardiopathy, arhinencephaly 1 1 Johan den Dunnen
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