Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.P1257delFs
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ATM

NM_000051.4:p.P1257delFs

Associated Papers

Recurrent genetic variants and prioritization of variants of uncertain clinical significance associated with hereditary breast and ovarian cancer in families from the Region of Murcia.

Rosado-Jiménez L et al.

Advances in Laboratory Medicine, 2023

Chasing the origin of 23 recurrent BRCA1 mutations in Pakistani breast and ovarian cancer patients.

Rashid MU et al.

International Journal of Cancer, 2022

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR et al.

Human Mutation, 2018

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