Varaico: Literature-Extracted Genetic Variants

Gene:CEP104
Variant:p.I240T
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CEP104

NM_014704.4:p.I240T

Associated Papers

Joubert syndrome: a case report of neonatal presentation and early diagnosis.

González-Gordillo CI et al.

Boletin Medico Del Hospital Infantil De Mexico, 2023

[Holt-Oram syndrome. Presentation of a clinical case].

Amilachwari M et al.

Boletin Medico Del Hospital Infantil De Mexico, 1991

[Albinism and hemorrhagic disease. Hermansky and Pudlak syndrome. Presentation of a case].

Gamboa-Marrufo JD et al.

Boletin Medico Del Hospital Infantil De Mexico, 1984

[Tubular nephropathy caused by prolonged potassium deficiency].

GORDILLO G et al.

Boletin Medico Del Hospital Infantil De Mexico, 0

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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."