A nonsense variant in the second exon of the canonical transcript of NSD1 does not cause Sotos syndrome

Noa Ruhrman-Shahar; Nurit Assia Batzir; Gabriel Arie Lidzbarsky; Lily Bazak; Nurit Magal; Lina Basel-Salmon

doi:10.1002/ajmg.a.62519

A nonsense variant in the second exon of the canonical transcript of NSD1 does not cause Sotos syndrome

Noa Ruhrman-Shahar, Nurit Assia Batzir, Gabriel Arie Lidzbarsky, Lily Bazak, Nurit Magal, Lina Basel-Salmon^*

^*Corresponding author for this work

Pediatrics

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

1 Scopus citations

Original language	English
Pages (from-to)	369-372
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	188
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.a.62519
State	Published - Jan 2022

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10.1002/ajmg.a.62519

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author = "Noa Ruhrman-Shahar and {Assia Batzir}, Nurit and Lidzbarsky, {Gabriel Arie} and Lily Bazak and Nurit Magal and Lina Basel-Salmon",

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AU - Magal, Nurit

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A nonsense variant in the second exon of the canonical transcript of NSD1 does not cause Sotos syndrome

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