Varaico: Literature-Extracted Genetic Variants

Gene:PTCHD1
Variant:p.F626S
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PTCHD1

NM_173495.3:p.F626S

Associated Papers

The PTCHD1 protein: A prominent actor in brain function and in neurodevelopmental disorders.

Ung DC et al.

Neuroscience and Biobehavioral Reviews, 2025

Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.

Montanaro FAM et al.

Frontiers in Psychiatry, 2024

PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.

Montanaro FAM et al.

Frontiers in Psychiatry, 2023

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