View all individuals with variants in gene KAT6B

59 entries on 1 page. Showing entries 1 - 59.
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AscendingIndividual ID     

Individual_ID     

Reference     

Remarks     

Gender     

Consanguinity     

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Population     

Age of death     

VIP     

Data_av     

Treatment     

Disease     

Variants     

Panel size     

Owner     
00018483 - - Typical Say Barber Biesecker F - - - - 0 - - SBBYSS 1 1 Jill Clayton-Smith
00018485 - - Say Barber Biesecker Study - - - - - 0 - - SBBYSS 1 1 Jill Clayton-Smith
00018486 - - - - - - - - 0 - - SBBYSS 1 1 Jill Clayton-Smith
00018488 - - - - - - - - 0 - - SBBYSS 1 1 Jill Clayton-Smith
00018491 - - - - - - - - 0 - - SBBYSS 1 1 Jill Clayton-Smith
00018492 - - - - - - - - 0 - - SBBYSS 1 1 Jill Clayton-Smith
00018493 - - - - - - - - 0 - - SBBYSS 1 1 Jill Clayton-Smith
00018494 - - - M - - - - 0 - - SBBYSS 1 1 Jill Clayton-Smith
00018495 - - - M - - - - 0 - - SBBYSS 1 1 Jill Clayton-Smith
00018496 - - - F no United Kingdom (Great Britain) - - 0 - - SBBYSS 1 1 Jill Clayton-Smith
00018497 - - - F - - - - 0 - - SBBYSS 1 1 Jill Clayton-Smith
00018498 - - - F - - - - 0 - - SBBYSS 1 1 Jill Clayton-Smith
00018499 - - - - - - - - 0 - - SBBYSS 1 1 Jill Clayton-Smith
00018500 - - - M - - - - 0 - - SBBYSS 1 1 Jill Clayton-Smith
00018501 - - - - - - - - 0 - - SBBYSS 1 1 Jill Clayton-Smith
00018502 - - - F - - - - 0 - - SBBYSS 1 1 Jill Clayton-Smith
00018504 - - - F - - - - 0 - - SBBYSS 1 1 Jill Clayton-Smith
00018505 - - - - - - - - 0 - - SBBYSS 1 1 Jill Clayton-Smith
00018506 - - - - - - - - 0 - - SBBYSS 1 1 Jill Clayton-Smith
00018507 - - Studied in Ulm - - - - - 0 - - SBBYSS 1 1 Jill Clayton-Smith
00018509 - - - - - - - - 0 - - SBBYSS 1 1 Jill Clayton-Smith
00018512 - - - F - - - - 0 - - GTPTS 1 1 Jill Clayton-Smith
00018513 - - - M - - - - 0 - - GTPTS 1 1 Jill Clayton-Smith
00018514 - - - M - - - - 0 - - GTPTS 1 1 Jill Clayton-Smith
00018515 - - - M - - - - 0 - - SBBYSS 1 1 Jill Clayton-Smith
00018516 - PubMed: Clayton-Smith et al. - M ? ? (unknown) ? - 0 - - SBBYSS 1 1 Philippe Campeau
00018517 - PubMed: Clayton-Smith et al. - M ? ? (unknown) ? - 0 - - SBBYSS 1 1 Philippe Campeau
00018518 - PubMed: Clayton-Smith et al. - M ? ? (unknown) ? - 0 - - SBBYSS 1 1 Philippe Campeau
00018519 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS 1 1 Philippe Campeau
00018520 - PubMed: Clayton-Smith et al. - M ? ? (unknown) ? - 0 - - SBBYSS 1 1 Philippe Campeau
00018521 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS 1 1 Philippe Campeau
00018522 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS 1 1 Philippe Campeau
00018523 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS 1 1 Philippe Campeau
00018524 - PubMed: Clayton-Smith et al. - M ? ? (unknown) ? - 0 - - SBBYSS 1 1 Philippe Campeau
00018525 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS 1 1 Philippe Campeau
00018526 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS 1 1 Philippe Campeau
00018527 - - - F ? ? (unknown) ? - 0 - - GTPTS 1 1 Philippe Campeau
00018528 - PubMed: Simpson et al. - F ? ? (unknown) ? - 0 - - GTPTS 1 1 Philippe Campeau
00018529 - - - F ? ? (unknown) ? - 0 - - GTPTS 1 1 Philippe Campeau
00018530 - - - M ? ? (unknown) ? - 0 - - GTPTS 1 1 Philippe Campeau
00018531 - - - M ? ? (unknown) ? - 0 - - GTPTS 1 1 Philippe Campeau
00018532 - - - F ? ? (unknown) ? - 0 - - GTPTS 1 1 Philippe Campeau
00018533 - PubMed: Kraft M et al. - M ? ? (unknown) ? - 0 - - NS 1 1 Philippe Campeau
00018534 - - - M ? ? (unknown) ? - 0 - - GTPTS 1 1 Philippe Campeau
00018535 - - - - ? ? (unknown) ? - 0 - - SBBYSS 1 1 Philippe Campeau
00018536 - Szakszon et al, AJMG 2013 - M ? ? (unknown) ? - 0 - - SBBYSS 1 1 Philippe Campeau
00018537 - Szakszon et al, AJMG 2013 - F ? ? (unknown) ? - 0 - - SBBYSS 1 1 Philippe Campeau
00018538 - - - M ? ? (unknown) ? - 0 - - GTPTS 1 1 Philippe Campeau
00018539 - - - F ? ? (unknown) ? - 0 - - GTPTS 1 1 Philippe Campeau
00018540 - - - M ? ? (unknown) ? - 0 - - GTPTS 1 1 Philippe Campeau
00018541 - - - F ? ? (unknown) ? - 0 - - GTPTS 1 1 Philippe Campeau
00018542 - - - M ? ? (unknown) ? - 0 - - GTPTS 1 1 Philippe Campeau
00018543 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS 1 1 Philippe Campeau
00018544 - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - SBBYSS 1 1 Philippe Campeau
00050412 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? 1 1 Johan den Dunnen
00050507 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? 1 1 Johan den Dunnen
00050628 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected father/child F - United Kingdom (Great Britain) - - 0 Decipher - ? 1 2 Johan den Dunnen
00050641 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected and affected2nd degree relatives F - United Kingdom (Great Britain) - - 0 Decipher - ? 1 1 Johan den Dunnen
00080993 - Trujillano et al., submitted unaffected non-carrier parents - - - - - 0 - - GTPTS 1 1 Daniel Trujillano
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