De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes
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De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes
description
scientific article published on 01 September 2019
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De novo loss-of-function KCNMA ...... al and neurological phenotypes
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type
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De novo loss-of-function KCNMA ...... al and neurological phenotypes
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prefLabel
De novo loss-of-function KCNMA ...... al and neurological phenotypes
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P2093
P356
P1476
De novo loss-of-function KCNMA ...... al and neurological phenotypes
@en
P2093
Adelaide Rega
Anna C E Hurst
Anne Saint-Martin
Benjamin Cogné
Bertrand Isidor
Bénédicte Gerard
Chengqi Xu
Christel Thauvin-Robinet
Christina Y Hung
Daniel C Helbling
P304
P356
10.1093/HMG/DDZ117
P577
2019-09-01T00:00:00Z