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Publications by Agustín España

A Novel Missense Mutation in the CYLD Gene in a Spanish Family With Multiple Familial Trichoepithelioma

Archives of Dermatology

English

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A Novel Missense Mutation p.L76P in the GJB2 Gene Causing Nonsyndromic Recessive Deafness in a Brazilian Family

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Germline Mutation Analysis in the CYLD Gene in Chinese Patients With Multiple Trichoepitheliomas

Genetics and Molecular Research

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Novel Amyloid Precursor Protein Gene Missense Mutation (D678N) in Probable Familial Alzheimer's Disease

Journal of Neurology, Neurosurgery and Psychiatry

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A Novel Pathogenic Germline Mutation in the Adenomatous Polyposis Coli Gene in a Chinese Family With Familial Adenomatous Coli

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A Novel Missense Mutation in USP26 Gene Is Associated With Nonobstructive Azoospermia

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A Novel Missense Mutation T101N in the Melanocortin-4 Receptor Gene Associated With Obesity

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Novel Missense Variants in the RNF213 Gene From a European Family With Moyamoya Disease

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A Novel Missense Mutation of F 9 Gene in Hemophilia B Patients

Journal of Blood Disorders & Transfusion

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A Novel Missense Mutation That May Be Associated With the Polydactyly in the HOXD13 Gene: Q241H

The Annals of Clinical and Analytical Medicine

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