Varaico: Literature-Extracted Genetic Variants

Gene:CSAD
Variant:p.L102V
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CSAD

NM_001244705.2:p.L102V

Associated Papers

A role for TENM1 mutations in congenital general anosmia.

Alkelai A et al.

Clinical Genetics, 2016

27040985 (PubMed )
Supplement: supplement_1.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 838.321
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."