Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA4
Variant:p.V1199M
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SMARCA4

NM_003072.5:p.V1199M

Associated Papers

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

Hardcastle A et al.

American Journal of Medical Genetics. Part A, 2022

Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia.

Gofin Y et al.

American Journal of Medical Genetics. Part A, 2022

A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study.

Hong SY et al.

Journal of Personalized Medicine, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."