Empirically downgrading 10 constitutional missense variants of the NF1 gene based on co-existing truncating variants

Kluwe Lan; Mautner Victor F.

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Empirically downgrading 10 constitutional missense variants of the NF1 gene based on co-existing truncating variants

机译：基于共存截断变体的凭证降级NF1基因的10个致命的畸形变种

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来源
《American journal of medical genetics, Part A》 |2021年第2期|共2页
作者
Kluwe Lan; Mautner Victor F.;
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作者单位

Univ Med Ctr Hamburg Eppendorf Dept Neurol Hamburg Germany;

Univ Med Ctr Hamburg Eppendorf Dept Neurol Hamburg Germany;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
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Empirically downgrading 10 constitutional missense variants of the NF1 gene based on co-existing truncating variants

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