Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L2073_L2077delFs
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ATM

NM_000051.4:p.L2073_L2077delFs

Associated Papers

Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India.

Rawat A et al.

Scientific Reports, 2022

Centralized rapid genetic diagnosis of combined immunodeficiency in Japan.

Kato T et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

40457861 (PubMed )
Supplement: PED-67-e70085-s003.xlsx › TableS3
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