Missense variant in RBM10 associated with mild and non-lethal form of TARP syndrome

Amiee B. Potter; Timothy D. O'Brien; Arpita Kulkarni; Sarah McCabe; Kathryn Matthews; Karen Kovak; Caleb Rogers; C. Sue Richards; Stephen Moore

doi:10.1111/cge.14326

Missense variant in RBM10 associated with mild and non-lethal form of TARP syndrome

Amiee B. Potter, Timothy D. O'Brien, Arpita Kulkarni, Sarah McCabe, Kathryn Matthews, Karen Kovak, Caleb Rogers, C. Sue Richards, Stephen Moore

Research output: Contribution to journal › Letter › peer-review

2 Scopus citations

Original language	English (US)
Pages (from-to)	269-271
Number of pages	3
Journal	Clinical Genetics
Volume	104
Issue number	2
DOIs	https://doi.org/10.1111/cge.14326
State	Published - Aug 2023

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1111/cge.14326

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@article{ca6c1fbc99994a40b2aadc8c77ec2bbd,

title = "Missense variant in RBM10 associated with mild and non-lethal form of TARP syndrome",

author = "Potter, {Amiee B.} and O'Brien, {Timothy D.} and Arpita Kulkarni and Sarah McCabe and Kathryn Matthews and Karen Kovak and Caleb Rogers and Richards, {C. Sue} and Stephen Moore",

note = "Funding Information: The authors would like to thank the family for participating and the Knight Diagnostic Laboratories team.",

year = "2023",

month = aug,

doi = "10.1111/cge.14326",

language = "English (US)",

volume = "104",

pages = "269--271",

journal = "Clinical Genetics",

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T1 - Missense variant in RBM10 associated with mild and non-lethal form of TARP syndrome

AU - Potter, Amiee B.

AU - O'Brien, Timothy D.

AU - Kulkarni, Arpita

AU - McCabe, Sarah

AU - Matthews, Kathryn

AU - Kovak, Karen

AU - Rogers, Caleb

AU - Richards, C. Sue

AU - Moore, Stephen

N1 - Funding Information: The authors would like to thank the family for participating and the Knight Diagnostic Laboratories team.

PY - 2023/8

Y1 - 2023/8

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U2 - 10.1111/cge.14326

DO - 10.1111/cge.14326

M3 - Letter

C2 - 36932902

AN - SCOPUS:85150831118

SN - 0009-9163

VL - 104

SP - 269

EP - 271

JO - Clinical Genetics

JF - Clinical Genetics

IS - 2

ER -

Missense variant in RBM10 associated with mild and non-lethal form of TARP syndrome

ASJC Scopus subject areas

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