F8 c.133G>T ;(p.V45L)

Variant ID: X-154250695-C-A

NM_000132.3(F8):c.133G>T;(p.V45L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

Brain : A Journal Of Neurology
Rattay, Tim W TW; Lindig, Tobias T; Baets, Jonathan J; Smets, Katrien K; Deconinck, Tine T; Söhn, Anne S AS; Hörtnagel, Konstanze K; Eckstein, Kathrin N KN; Wiethoff, Sarah S; Reichbauer, Jennifer J; Döbler-Neumann, Marion M; Krägeloh-Mann, Ingeborg I; Auer-Grumbach, Michaela M; Plecko, Barbara B; Münchau, Alexander A; Wilken, Bernd B; Janauschek, Marc M; Giese, Anne-Katrin AK; De Bleecker, Jan L JL; Ortibus, Els E; Debyser, Martine M; Lopez de Munain, Adolfo A; Pujol, Aurora A; Bassi, Maria Teresa MT; D'Angelo, Maria Grazia MG; De Jonghe, Peter P; Züchner, Stephan S; Bauer, Peter P; Schöls, Ludger L; Schüle, Rebecca R
Publication Date: 2019-06-01

Variant appearance in text: F8: 133G>T
PubMed Link: 31135052
Variant Present in the following documents:
  • Main text
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