Varaico: Literature-Extracted Genetic Variants

Gene:RTTN
Variant:p.E19D
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RTTN

NM_173630.4:p.E19D

Associated Papers

Microcephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant in RTTN Gene: A Seckel Syndrome Case Report.

Mudassir BU et al.

Children (basel, Switzerland), 2023

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