Varaico: Literature-Extracted Genetic Variants

Gene:PATJ
Variant:p.P336H
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PATJ

NM_001350145.3:p.P336H

Associated Papers

New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.

Spirito G et al.

Npj Genomic Medicine, 2026

41629344 (PubMed )
Supplement: 41525_2025_547_MOESM2_ESM.xlsx › Table_S6

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5

Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.

Borràs E et al.

Clinical Genetics, 2013

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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."