Varaico: Literature-Extracted Genetic Variants

Gene:TMLHE
Variant:p.R5_L6ins0
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TMLHE

NM_018196.4:p.R5_L6ins0

Associated Papers

X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability.

Verhoeven WMA et al.

International Medical Case Reports Journal, 2025

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