• Mutation; HGNC; HGNC:1101; BRCA2; Simple; p.Ala938Profs*21 (c.2808_2811del) (3033delAAAC) (3036delACAA); ClinVar=VCV000009322; Zygosity=Heterozygous (PubMed=12065746).
  
• Mutation; HGNC; HGNC:1101; BRCA2; Simple; p.Lys3326Ter (c.9976A>T) (10204A>T); ClinVar=VCV000038266; Zygosity=Heterozygous (PubMed=12065746).
  

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Ryoji Ishida, Manuel Buchwald;
Susceptibility of Fanconi's anemia lymphoblasts to DNA-cross-linking and alkylating agents.
Cancer Res. 42:4000-4006(1982)

PubMed=7994019; DOI=10.1182/blood.V84.12.3995.bloodjournal84123995
Johnson M. Liu, Manuel Buchwald, Christopher Edward Walsh, Neal Stuart Young;
Fanconi anemia and novel strategies for therapy.
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PubMed=12065746; DOI=10.1126/science.1073834
Niall G. Howlett, Toshiyasu Taniguchi, Susan Olson, Barbara Cox, Quinten Waisfisz, Christine E.M. de Die-Smulders, Nicole Persky, Markus Grompe, Hans Joenje, Gerard Pals, Hideyuki Ikeda ...Show all 13 authors... , Edward A. Fox, Alan David D'Andrea; Show fewer authors
Biallelic inactivation of BRCA2 in Fanconi anemia.
Science 297:606-609(2002)

PubMed=16166284; DOI=10.1158/0008-5472.CAN-04-1198
David J. Araten, David W. Golde, Rong H. Zhang, Howard Tzvi Thaler, Lucia Gargiulo, Rosario Notaro, Lucio Luzzatto;
A quantitative measurement of the human somatic mutation rate.
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