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Rare de novo gain-of-function missense variants in DOT1L ar..:

Nil, Zelha ; Deshwar, Ashish R. ; Huang, Yan...
The American Journal of Human Genetics. 110 (2023) 11 - p. 1919-1937 , 2023

Link: https://doi.org/10.1016/j.ajhg.2023.09.009

RT Journal
T1 <Title>Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies</Title>

UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ajhg.2023.09.009&Exemplar=1&LAN=DE
				
A1 Nil, Zelha
A1 Deshwar, Ashish R.
A1 Huang, Yan
A1 Barish, Scott
A1 Zhang, Xi
A1 Choufani, Sanaa
A1 Le Quesne Stabej, Polona
A1 Hayes, Ian
A1 Yap, Patrick
A1 Haldeman-Englert, Chad
A1 Wilson, Carolyn
A1 Prescott, Trine
A1 Tveten, Kristian
A1 Vøllo, Arve
A1 Haynes, Devon
A1 Wheeler, Patricia G.
A1 Zon, Jessica
A1 Cytrynbaum, Cheryl
A1 Jobling, Rebekah
A1 Blyth, Moira
A1 Banka, Siddharth
A1 Afenjar, Alexandra
A1 Mignot, Cyril
A1 Robin-Renaldo, Florence
A1 Keren, Boris
A1 Kanca, Oguz
A1 Mao, Xiao
A1 Wegner, Daniel J.
A1 Sisco, Kathleen
A1 Shinawi, Marwan
PB Elsevier BV
YR 2023
SN 0002-9297
JF The American Journal of Human Genetics
VO 110
IS 11
SP 1919
OP 1937
LK http://dx.doi.org/https://doi.org/10.1016/j.ajhg.2023.09.009
DO https://doi.org/10.1016/j.ajhg.2023.09.009
SF ELIB - SuUB Bremen

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