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O04: Developing a framework for sequence variant interpreta..:
Groopman, Emily
;
Thomas-Wilson, Amanda
;
Mohan, Shruthi
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100005 , 2023
Link:
https://doi.org/10.1016/j.gimo.2023.100005
RT Journal T1
O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gimo.2023.100005&Exemplar=1&LAN=DE A1 Groopman, Emily A1 Thomas-Wilson, Amanda A1 Mohan, Shruthi A1 Goldstein, Jennifer A1 Weaver, Meredith A1 Fernandez, Raquel A1 Wallis, Heidi A1 Caldovic, Ljuba A1 Mew, Nicholas Ah A1 De Biase, Irene A1 Moser, Ann A1 Suchy, Sharon A1 Yuzyuk, Tatiana A1 Young, Sarah A1 Mercimek-Andrews, Saadet A1 Braverman, Nancy A1 Mao, Rong PB Elsevier BV YR 2023 SN 2949-7744 JF Genetics in Medicine Open VO 1 IS 1 SP 100005 LK http://dx.doi.org/https://doi.org/10.1016/j.gimo.2023.100005 DO https://doi.org/10.1016/j.gimo.2023.100005 SF ELIB - SuUB Bremen
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