Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.K127N
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PTHLH

NM_198965.2:p.K127N

Associated Papers

ALS mutations in the TIA-1 prion-like domain trigger highly condensed pathogenic structures.

Sekiyama N et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

36112647 (PubMed )
Supplement: pnas.2122523119.sapp.pdf
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