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

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
Externally published	Yes

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10.1002/ajmg.a.62519

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

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

year = "2022",

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doi = "10.1002/ajmg.a.62519",

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AU - Ruhrman-Shahar, Noa

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AU - Lidzbarsky, Gabriel Arie

AU - Bazak, Lily

AU - Magal, Nurit

AU - Basel-Salmon, Lina

PY - 2022/1

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JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 1

ER -

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

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