Varaico: Literature-Extracted Genetic Variants

Gene:NSRP1
Variant:p.D342N
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NSRP1

NM_032141.4:p.D342N

Associated Papers

Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF.

Khalil A et al.

Bmc Medical Genetics, 2020

31898538 (PubMed )
Supplement: 12881_2019_942_MOESM4_ESM.xls › suppTable3

Comprehensive genomic analysis of a BRCA2 deficient human pancreatic cancer.

Barber LJ et al.

Plos One, 2011

21750719 (PubMed )
Supplement: pone.0021639.s006.xls › Sheet1
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