Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.F1181delFs
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PALB2

NM_024675.4:p.F1181delFs

Associated Papers

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants.

Richardson ME et al.

American Journal of Human Genetics, 2025

Evolutionary Origin of Human PALB2 Germline Pathogenic Variants.

Chian JS et al.

International Journal of Molecular Sciences, 2023

37511102 (PubMed )
Supplement: ijms-24-11343-s001.zip › Table_S1_Human_PALB2_variants_identified_from_Clinvar_database.xlsx › PVs

Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore.

Ng PS et al.

Journal of Medical Genetics, 2022

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