Varaico: Literature-Extracted Genetic Variants

Gene:HSPA9
Variant:p.N149I
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HSPA9

NM_004134.7:p.N149I

Associated Papers

Prenatal to preimplantation genetic diagnosis of a novel compound heterozygous mutation in HSPA9 associated with Even-Plus syndrome.

Chang X et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

A new phenotype of EVEN-PLUS syndrome in a Chinese family and literature review.

Liu M et al.

Molecular Genetics & Genomic Medicine, 2024

EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction.

Younger G et al.

American Journal of Medical Genetics. Part A, 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."